Novel gene function revealed by mouse mutagenesis screens for models of age-related disease
Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to iden...
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| Veröffentlicht in: | Nature communications Jg. 7; H. 1; S. 12444 - 13 |
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| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
London
Nature Publishing Group UK
18.08.2016
Nature Publishing Group Nature Portfolio |
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| ISSN: | 2041-1723, 2041-1723 |
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| Abstract | Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized
N
-ethyl-
N
-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss.
Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing. |
|---|---|
| AbstractList | Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N-ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss.
Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing. Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N-ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss. Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N -ethyl- N -nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss. Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing. Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N -ethyl- N -nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss. Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains generated by ENU mutagenesis to identify mice with age-related diseases, which they attribute to specific mutations revealed by whole-genome sequencing. Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N-ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss.Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N-ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss. |
| ArticleNumber | 12444 |
| Author | Brown, Steve D. M. Jackson, Ian J. Bowl, Michael R. Cheeseman, Michael Stelma, Femke Parker, Andrew Cross, Sally H. Blease, Andrew Michel, Vincent Peirson, Stuart N. Lad, Heena V. Banks, Gareth Cox, Roger Pickford, Karen Barnard, Alun Chessum, Lauren MacLaren, Robert E. King, Ruairidh Simon, Michelle M. Heise, Ines Hough, Tertius Wisby, Laura Potter, Paul K. Greenaway, Simon Goldsworthy, Michelle E. Hillier, Rosie Agnew, Thomas Foster, Russell G. Haynes, Andy Hutchison, Marie Petit, Christine Aguilar, Carlos Dorning, Joanne Nolan, Patrick M. El-Amraoui, Aziz Scudamore, Cheryl Starbuck, Becky Hoslin, Angela Mallon, Anne-Marie Law, Gemma Falcone, Sara Jeyarajan, Prashanthini Thakker, Rajesh V. Blake, Andrew Vincent, Tonia Wells, Sara Harris, Shelley Nicol, Thomas Sethi, Siddharth Acevedo-Arozena, Abraham Goosey, Laurence Kumar, Saumya Morse, Susan |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27534441$$D View this record in MEDLINE/PubMed https://pasteur.hal.science/pasteur-03922337$$DView record in HAL |
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| Cites_doi | 10.1086/444401 10.1038/ng1176 10.1007/s00335-012-9427-x 10.1073/pnas.1423216112 10.1073/pnas.0705487105 10.1371/journal.pone.0046155 10.1371/journal.pgen.1003219 10.1016/j.coi.2006.07.011 10.1016/j.drudis.2007.07.013 10.1288/00005537-195506000-00002 10.1016/j.heares.2011.11.007 10.1038/78140 10.1016/j.ajhg.2009.12.018 10.1038/nmeth0410-248 10.1038/nmeth0810-575 10.1016/j.cub.2012.07.024 10.1681/ASN.2005121298 10.1093/bioinformatics/btr372 10.1097/01.moo.0000134450.99615.22 10.1093/hmg/ddg001 10.1038/nprot.2009.86 10.1093/bioinformatics/btp324 10.1371/journal.pone.0076360 10.3109/00016487809122718 10.1038/nature10413 10.1038/ni.2588 10.1038/78146 10.1006/dbio.1999.9546 10.1016/j.bbagen.2006.08.016 10.1073/pnas.94.13.6943 10.1146/annurev.genom.9.081307.164224 10.1177/00034894931020S101 10.1016/j.addr.2008.02.002 10.1089/hum.2013.009 10.1038/ng0694-154 10.1016/j.brainres.2006.02.021 10.1007/s00018-014-1691-3 10.2741/3118 10.1002/em.20586 |
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| DOI | 10.1038/ncomms12444 |
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| References | Hunter-Duvar (CR38) 1978; 351 Li, Durbin (CR34) 2009; 25 Cook, Vinuesa, Goodnow (CR7) 2006; 18 Chatterjee (CR16) 2013; 8 Schuknecht (CR28) 1955; 65 Solberg (CR37) 1983; 21 Brown, Moore (CR13) 2012; 23 Bok (CR27) 2003; 34 Grant, Arantes, Liao, Stothard (CR36) 2011; 27 Schwarz, Rodelsperger, Schuelke, Seelow (CR24) 2010; 7 Watanabe, Nakata, Kimata, Nakanishi, Yamada (CR17) 1997; 94 Hrabe de Angelis (CR3) 2000; 25 Bull (CR5) 2013; 9 Ohlemiller (CR30) 2004; 12 Gleghorn, Ramesar, Beighton, Wallis (CR19) 2005; 77 Keane (CR35) 2011; 477 Niccoli, Partridge (CR1) 2012; 22 Miner, Li (CR14) 2000; 217 Johnson, Zheng, Noben-Trauth (CR12) 2006; 1091 Wallace (CR9) 2010; 51 Acevedo-Arozena (CR4) 2008; 9 Dykens, Will (CR32) 2007; 12 Hilgen (CR25) 2012; 7 Schuknecht, Gacek (CR29) 1993; 102 Watanabe (CR18) 1994; 7 Shannon, Patton, Harvey, Miner (CR15) 2006; 17 Adzhubei (CR22) 2010; 7 Wang (CR6) 2015; 112 Hoebe, Beutler (CR8) 2008; 60 Nolan (CR2) 2000; 25 Goronzy, Weyand (CR31) 2013; 14 Kumar, Henikoff, Ng (CR23) 2009; 4 Jacobs (CR26) 2008; 105 Kane (CR33) 2012; 283 Voros, Sandy, Collen, Lijnen (CR21) 2006; 1760 Teubner (CR40) 2003; 12 Hoelter (CR11) 2008; 13 Lipinski (CR39) 2014; 25 Burton, Krizhanovsky (CR10) 2014; 71 Stattin (CR20) 2010; 86 T Niccoli (BFncomms12444_CR1) 2012; 22 MH Hrabe de Angelis (BFncomms12444_CR3) 2000; 25 PM Nolan (BFncomms12444_CR2) 2000; 25 IM Hunter-Duvar (BFncomms12444_CR38) 1978; 351 T Wang (BFncomms12444_CR6) 2015; 112 SD Brown (BFncomms12444_CR13) 2012; 23 R Chatterjee (BFncomms12444_CR16) 2013; 8 G Voros (BFncomms12444_CR21) 2006; 1760 A Acevedo-Arozena (BFncomms12444_CR4) 2008; 9 G Hilgen (BFncomms12444_CR25) 2012; 7 SM Hoelter (BFncomms12444_CR11) 2008; 13 KR Johnson (BFncomms12444_CR12) 2006; 1091 JH Miner (BFncomms12444_CR14) 2000; 217 HF Schuknecht (BFncomms12444_CR29) 1993; 102 HE Solberg (BFncomms12444_CR37) 1983; 21 K Hoebe (BFncomms12444_CR8) 2008; 60 D Bok (BFncomms12444_CR27) 2003; 34 TM Keane (BFncomms12444_CR35) 2011; 477 B Teubner (BFncomms12444_CR40) 2003; 12 H Watanabe (BFncomms12444_CR18) 1994; 7 JM Schwarz (BFncomms12444_CR24) 2010; 7 DG Burton (BFncomms12444_CR10) 2014; 71 L Gleghorn (BFncomms12444_CR19) 2005; 77 KR Bull (BFncomms12444_CR5) 2013; 9 JR Grant (BFncomms12444_CR36) 2011; 27 P Kumar (BFncomms12444_CR23) 2009; 4 S Jacobs (BFncomms12444_CR26) 2008; 105 JJ Goronzy (BFncomms12444_CR31) 2013; 14 DC Wallace (BFncomms12444_CR9) 2010; 51 KL Kane (BFncomms12444_CR33) 2012; 283 DM Lipinski (BFncomms12444_CR39) 2014; 25 HF Schuknecht (BFncomms12444_CR28) 1955; 65 JA Dykens (BFncomms12444_CR32) 2007; 12 EL Stattin (BFncomms12444_CR20) 2010; 86 H Watanabe (BFncomms12444_CR17) 1997; 94 MB Shannon (BFncomms12444_CR15) 2006; 17 IA Adzhubei (BFncomms12444_CR22) 2010; 7 KK Ohlemiller (BFncomms12444_CR30) 2004; 12 H Li (BFncomms12444_CR34) 2009; 25 MC Cook (BFncomms12444_CR7) 2006; 18 |
| References_xml | – volume: 77 start-page: 484 year: 2005 end-page: 490 ident: CR19 article-title: A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis publication-title: Am. J. Hum. Genet. doi: 10.1086/444401 – volume: 34 start-page: 313 year: 2003 end-page: 319 ident: CR27 article-title: Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3 publication-title: Nat. Genet. doi: 10.1038/ng1176 – volume: 23 start-page: 632 year: 2012 end-page: 640 ident: CR13 article-title: The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping publication-title: Mamm. Genome doi: 10.1007/s00335-012-9427-x – volume: 112 start-page: E440 year: 2015 end-page: E449 ident: CR6 article-title: Real-time resolution of point mutations that cause phenovariance in mice publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1423216112 – volume: 105 start-page: 311 year: 2008 end-page: 316 ident: CR26 article-title: Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.0705487105 – volume: 51 start-page: 440 year: 2010 end-page: 450 ident: CR9 article-title: Mitochondrial DNA mutations in disease and aging publication-title: Environ. Mol. Mutagen – volume: 7 start-page: e46155 year: 2012 ident: CR25 article-title: Lack of the sodium-driven chloride bicarbonate exchanger NCBE impairs visual function in the mouse retina publication-title: PLoS ONE doi: 10.1371/journal.pone.0046155 – volume: 9 start-page: e1003219 year: 2013 ident: CR5 article-title: Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1003219 – volume: 18 start-page: 627 year: 2006 end-page: 633 ident: CR7 article-title: ENU-mutagenesis: insight into immune function and pathology publication-title: Curr. Opin. Immunol. doi: 10.1016/j.coi.2006.07.011 – volume: 12 start-page: 777 year: 2007 end-page: 785 ident: CR32 article-title: The significance of mitochondrial toxicity testing in drug development publication-title: Drug Discov Today doi: 10.1016/j.drudis.2007.07.013 – volume: 65 start-page: 402 year: 1955 end-page: 419 ident: CR28 article-title: Presbycusis publication-title: Laryngoscope doi: 10.1288/00005537-195506000-00002 – volume: 283 start-page: 80 year: 2012 end-page: 88 ident: CR33 article-title: Genetic background effects on age-related hearing loss associated with Cdh23 variants in mice publication-title: Hear. Res. doi: 10.1016/j.heares.2011.11.007 – volume: 25 start-page: 440 year: 2000 end-page: 443 ident: CR2 article-title: A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse publication-title: Nat. Genet. doi: 10.1038/78140 – volume: 86 start-page: 126 year: 2010 end-page: 137 ident: CR20 article-title: A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.12.018 – volume: 7 start-page: 248 year: 2010 end-page: 249 ident: CR22 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 – volume: 7 start-page: 575 year: 2010 end-page: 576 ident: CR24 article-title: MutationTaster evaluates disease-causing potential of sequence alterations publication-title: Nat. Methods doi: 10.1038/nmeth0810-575 – volume: 22 start-page: R741 year: 2012 end-page: R752 ident: CR1 article-title: Ageing as a risk factor for disease publication-title: Curr. Biol. doi: 10.1016/j.cub.2012.07.024 – volume: 17 start-page: 1913 year: 2006 end-page: 1922 ident: CR15 article-title: A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease publication-title: J. Am. Soc. Nephrol. doi: 10.1681/ASN.2005121298 – volume: 27 start-page: 2300 year: 2011 end-page: 2301 ident: CR36 article-title: In-depth annotation of SNPs arising from resequencing projects using NGS-SNP publication-title: Bioinformatics doi: 10.1093/bioinformatics/btr372 – volume: 12 start-page: 439 year: 2004 end-page: 443 ident: CR30 article-title: Age-related hearing loss: the status of Schuknecht's typology publication-title: Curr. Opin. Otolaryngol. Head Neck Surg. doi: 10.1097/01.moo.0000134450.99615.22 – volume: 12 start-page: 13 year: 2003 end-page: 21 ident: CR40 article-title: Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddg001 – volume: 4 start-page: 1073 year: 2009 end-page: 1081 ident: CR23 article-title: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm publication-title: Nat. Protoc. doi: 10.1038/nprot.2009.86 – volume: 25 start-page: 1754 year: 2009 end-page: 1760 ident: CR34 article-title: Fast and accurate short read alignment with Burrows-Wheeler transform publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp324 – volume: 8 start-page: e76360 year: 2013 ident: CR16 article-title: Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria publication-title: PLoS ONE doi: 10.1371/journal.pone.0076360 – volume: 351 start-page: 3 year: 1978 end-page: 23 ident: CR38 article-title: A technique for preparation of cochlear specimens for assessment with the scanning electron microscope publication-title: Acta Otolaryngol. Suppl. doi: 10.3109/00016487809122718 – volume: 477 start-page: 289 year: 2011 end-page: 294 ident: CR35 article-title: Mouse genomic variation and its effect on phenotypes and gene regulation publication-title: Nature doi: 10.1038/nature10413 – volume: 14 start-page: 428 year: 2013 end-page: 436 ident: CR31 article-title: Understanding immunosenescence to improve responses to vaccines publication-title: Nat. Immunol. doi: 10.1038/ni.2588 – volume: 25 start-page: 444 year: 2000 end-page: 447 ident: CR3 article-title: Genome-wide, large-scale production of mutant mice by ENU mutagenesis publication-title: Nat. Genet. doi: 10.1038/78146 – volume: 217 start-page: 278 year: 2000 end-page: 289 ident: CR14 article-title: Defective glomerulogenesis in the absence of laminin alpha5 demonstrates a developmental role for the kidney glomerular basement membrane publication-title: Dev. Biol. doi: 10.1006/dbio.1999.9546 – volume: 1760 start-page: 1837 year: 2006 end-page: 1844 ident: CR21 article-title: Expression of aggrecan(ases) during murine preadipocyte differentiation and adipose tissue development publication-title: Biochim. Biophys. Acta doi: 10.1016/j.bbagen.2006.08.016 – volume: 94 start-page: 6943 year: 1997 end-page: 6947 ident: CR17 article-title: Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.94.13.6943 – volume: 9 start-page: 49 year: 2008 end-page: 69 ident: CR4 article-title: ENU mutagenesis, a way forward to understand gene function publication-title: Annu. Rev. Genomics Hum. Genet. doi: 10.1146/annurev.genom.9.081307.164224 – volume: 102 start-page: 1 year: 1993 end-page: 16 ident: CR29 article-title: Cochlear pathology in presbycusis publication-title: Ann. Otol. Rhinol. Laryngol. doi: 10.1177/00034894931020S101 – volume: 60 start-page: 824 year: 2008 end-page: 829 ident: CR8 article-title: Forward genetic analysis of TLR-signaling pathways: an evaluation publication-title: Adv. Drug Deliv. Rev. doi: 10.1016/j.addr.2008.02.002 – volume: 25 start-page: 50 year: 2014 end-page: 62 ident: CR39 article-title: Vesicular stomatitis virus glycoprotein- and Venezuelan equine encephalitis virus-derived glycoprotein-pseudotyped lentivirus vectors differentially transduce corneal endothelium, trabecular meshwork, and human photoreceptors publication-title: Hum. Gene Ther. doi: 10.1089/hum.2013.009 – volume: 21 start-page: 749 year: 1983 end-page: 760 ident: CR37 article-title: The theory of reference values Part 5. Statistical treatment of collected reference values. Determination of reference limits publication-title: J. Clin. Chem. Clin. Biochem. – volume: 7 start-page: 154 year: 1994 end-page: 157 ident: CR18 article-title: Mouse cartilage matrix deficiency (cmd) caused by a 7 bp deletion in the aggrecan gene publication-title: Nat. Genet. doi: 10.1038/ng0694-154 – volume: 1091 start-page: 79 year: 2006 end-page: 88 ident: CR12 article-title: Strain background effects and genetic modifiers of hearing in mice publication-title: Brain Res. doi: 10.1016/j.brainres.2006.02.021 – volume: 71 start-page: 4373 year: 2014 end-page: 4386 ident: CR10 article-title: Physiological and pathological consequences of cellular senescence publication-title: Cell. Mol. Life Sci. doi: 10.1007/s00018-014-1691-3 – volume: 13 start-page: 5810 year: 2008 end-page: 5823 ident: CR11 article-title: ‘Sighted C3H’ mice--a tool for analysing the influence of vision on mouse behaviour? publication-title: Front. Biosci. doi: 10.2741/3118 – volume: 8 start-page: e76360 year: 2013 ident: BFncomms12444_CR16 publication-title: PLoS ONE doi: 10.1371/journal.pone.0076360 – volume: 65 start-page: 402 year: 1955 ident: BFncomms12444_CR28 publication-title: Laryngoscope doi: 10.1288/00005537-195506000-00002 – volume: 477 start-page: 289 year: 2011 ident: BFncomms12444_CR35 publication-title: Nature doi: 10.1038/nature10413 – volume: 4 start-page: 1073 year: 2009 ident: BFncomms12444_CR23 publication-title: Nat. Protoc. doi: 10.1038/nprot.2009.86 – volume: 25 start-page: 50 year: 2014 ident: BFncomms12444_CR39 publication-title: Hum. Gene Ther. doi: 10.1089/hum.2013.009 – volume: 86 start-page: 126 year: 2010 ident: BFncomms12444_CR20 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.12.018 – volume: 1760 start-page: 1837 year: 2006 ident: BFncomms12444_CR21 publication-title: Biochim. Biophys. Acta doi: 10.1016/j.bbagen.2006.08.016 – volume: 12 start-page: 13 year: 2003 ident: BFncomms12444_CR40 publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddg001 – volume: 17 start-page: 1913 year: 2006 ident: BFncomms12444_CR15 publication-title: J. Am. Soc. Nephrol. doi: 10.1681/ASN.2005121298 – volume: 71 start-page: 4373 year: 2014 ident: BFncomms12444_CR10 publication-title: Cell. Mol. Life Sci. doi: 10.1007/s00018-014-1691-3 – volume: 23 start-page: 632 year: 2012 ident: BFncomms12444_CR13 publication-title: Mamm. Genome doi: 10.1007/s00335-012-9427-x – volume: 7 start-page: 575 year: 2010 ident: BFncomms12444_CR24 publication-title: Nat. Methods doi: 10.1038/nmeth0810-575 – volume: 27 start-page: 2300 year: 2011 ident: BFncomms12444_CR36 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btr372 – volume: 51 start-page: 440 year: 2010 ident: BFncomms12444_CR9 publication-title: Environ. Mol. Mutagen doi: 10.1002/em.20586 – volume: 112 start-page: E440 year: 2015 ident: BFncomms12444_CR6 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1423216112 – volume: 60 start-page: 824 year: 2008 ident: BFncomms12444_CR8 publication-title: Adv. Drug Deliv. Rev. doi: 10.1016/j.addr.2008.02.002 – volume: 9 start-page: 49 year: 2008 ident: BFncomms12444_CR4 publication-title: Annu. Rev. Genomics Hum. Genet. doi: 10.1146/annurev.genom.9.081307.164224 – volume: 18 start-page: 627 year: 2006 ident: BFncomms12444_CR7 publication-title: Curr. Opin. Immunol. doi: 10.1016/j.coi.2006.07.011 – volume: 7 start-page: 248 year: 2010 ident: BFncomms12444_CR22 publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 – volume: 105 start-page: 311 year: 2008 ident: BFncomms12444_CR26 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.0705487105 – volume: 283 start-page: 80 year: 2012 ident: BFncomms12444_CR33 publication-title: Hear. Res. doi: 10.1016/j.heares.2011.11.007 – volume: 351 start-page: 3 year: 1978 ident: BFncomms12444_CR38 publication-title: Acta Otolaryngol. Suppl. doi: 10.3109/00016487809122718 – volume: 22 start-page: R741 year: 2012 ident: BFncomms12444_CR1 publication-title: Curr. Biol. doi: 10.1016/j.cub.2012.07.024 – volume: 14 start-page: 428 year: 2013 ident: BFncomms12444_CR31 publication-title: Nat. Immunol. doi: 10.1038/ni.2588 – volume: 34 start-page: 313 year: 2003 ident: BFncomms12444_CR27 publication-title: Nat. Genet. doi: 10.1038/ng1176 – volume: 12 start-page: 777 year: 2007 ident: BFncomms12444_CR32 publication-title: Drug Discov Today doi: 10.1016/j.drudis.2007.07.013 – volume: 102 start-page: 1 year: 1993 ident: BFncomms12444_CR29 publication-title: Ann. Otol. Rhinol. Laryngol. doi: 10.1177/00034894931020S101 – volume: 25 start-page: 444 year: 2000 ident: BFncomms12444_CR3 publication-title: Nat. Genet. doi: 10.1038/78146 – volume: 9 start-page: e1003219 year: 2013 ident: BFncomms12444_CR5 publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1003219 – volume: 13 start-page: 5810 year: 2008 ident: BFncomms12444_CR11 publication-title: Front. Biosci. doi: 10.2741/3118 – volume: 25 start-page: 1754 year: 2009 ident: BFncomms12444_CR34 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp324 – volume: 77 start-page: 484 year: 2005 ident: BFncomms12444_CR19 publication-title: Am. J. Hum. Genet. doi: 10.1086/444401 – volume: 217 start-page: 278 year: 2000 ident: BFncomms12444_CR14 publication-title: Dev. Biol. doi: 10.1006/dbio.1999.9546 – volume: 25 start-page: 440 year: 2000 ident: BFncomms12444_CR2 publication-title: Nat. Genet. doi: 10.1038/78140 – volume: 7 start-page: 154 year: 1994 ident: BFncomms12444_CR18 publication-title: Nat. Genet. doi: 10.1038/ng0694-154 – volume: 21 start-page: 749 year: 1983 ident: BFncomms12444_CR37 publication-title: J. Clin. Chem. Clin. Biochem. – volume: 12 start-page: 439 year: 2004 ident: BFncomms12444_CR30 publication-title: Curr. Opin. Otolaryngol. Head Neck Surg. doi: 10.1097/01.moo.0000134450.99615.22 – volume: 94 start-page: 6943 year: 1997 ident: BFncomms12444_CR17 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.94.13.6943 – volume: 1091 start-page: 79 year: 2006 ident: BFncomms12444_CR12 publication-title: Brain Res. doi: 10.1016/j.brainres.2006.02.021 – volume: 7 start-page: e46155 year: 2012 ident: BFncomms12444_CR25 publication-title: PLoS ONE doi: 10.1371/journal.pone.0046155 |
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| Snippet | Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the... Random mutagenesis can uncover novel genes involved in phenotypic traits. Here the authors perform a large-scale phenotypic screen on over 100 mouse strains... |
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| SubjectTerms | 631/1647/334/1874/345 631/208/191/1908 64 64/60 692/699 Age Aging Aging - genetics Animals Cochlea - metabolism Diabetes Disease Disease Models, Animal Epithelium - ultrastructure Evoked Potentials, Auditory, Brain Stem - physiology Female Females Genes Genetic Testing Genetics Genomes Genotype & phenotype Hearing - genetics Hearing loss Hospitals Humanities and Social Sciences Life Sciences Male Males Mice, Inbred C57BL multidisciplinary Mutagenesis Mutagenesis - genetics Mutation Mutation - genetics Ophthalmology Pedigree Phenotype Physiology Rheumatology Science Science (multidisciplinary) |
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| Title | Novel gene function revealed by mouse mutagenesis screens for models of age-related disease |
| URI | https://link.springer.com/article/10.1038/ncomms12444 https://www.ncbi.nlm.nih.gov/pubmed/27534441 https://www.proquest.com/docview/1812250473 https://www.proquest.com/docview/1812890513 https://pasteur.hal.science/pasteur-03922337 https://pubmed.ncbi.nlm.nih.gov/PMC4992138 https://doaj.org/article/fa97ab87303c498f824c8286a0325379 |
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