The mouse genome database: genotypes, phenotypes, and models of human disease - PubMed (original) (raw)
. 2013 Jan;41(Database issue):D885-91.
doi: 10.1093/nar/gks1115. Epub 2012 Nov 21.
Collaborators, Affiliations
- PMID: 23175610
- PMCID: PMC3531104
- DOI: 10.1093/nar/gks1115
The mouse genome database: genotypes, phenotypes, and models of human disease
Carol J Bult et al. Nucleic Acids Res. 2013 Jan.
Abstract
The laboratory mouse is the premier animal model for studying human biology because all life stages can be accessed experimentally, a completely sequenced reference genome is publicly available and there exists a myriad of genomic tools for comparative and experimental research. In the current era of genome scale, data-driven biomedical research, the integration of genetic, genomic and biological data are essential for realizing the full potential of the mouse as an experimental model. The Mouse Genome Database (MGD; http://www.informatics.jax.org), the community model organism database for the laboratory mouse, is designed to facilitate the use of the laboratory mouse as a model system for understanding human biology and disease. To achieve this goal, MGD integrates genetic and genomic data related to the functional and phenotypic characterization of mouse genes and alleles and serves as a comprehensive catalog for mouse models of human disease. Recent enhancements to MGD include the addition of human ortholog details to mouse Gene Detail pages, the inclusion of microRNA knockouts to MGD's catalog of alleles and phenotypes, the addition of video clips to phenotype images, providing access to genotype and phenotype data associated with quantitative trait loci (QTL) and improvements to the layout and display of Gene Ontology annotations.
Figures
Figure 1.
Screenshots showing the new Human Ortholog and Phenotypic Alleles sections of the MGD Gene Detail page. (A) The SPATA16 gene in humans is associated with a human disease entry in the Online Mendelian Inheritance in Man database, whereas alleles of the orthologous mouse gene have yet to be phenotyped to determine if mutations in the mouse gene result in a good model of the human disease. (B) The CAV1 gene in humans is associated with congenital lipodystrophy, but the available mouse genotypes have not been associated with this disease. Phenotypic alleles of the Cav1 gene in mouse have been reported for models of human diseases (breast cancer and Alzheimer’s disease) that are not associated with the human ortholog. (C) The BICC1 gene in human has not yet been reported as being associated with any human disease, whereas the mouse ortholog has been reported to model several human diseases.
Figure 2.
Screenshot showing the link to phenotype images, including a video clip, in the Alleles and Phenotypes section of the Gene Detail page for the Bicc1 gene.
Figure 3.
Screenshot showing the new Gene Ontology annotation display in MGD.
Similar articles
- The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse.
Blake JA, Bult CJ, Eppig JT, Kadin JA, Richardson JE; Mouse Genome Database Group. Blake JA, et al. Nucleic Acids Res. 2014 Jan;42(Database issue):D810-7. doi: 10.1093/nar/gkt1225. Epub 2013 Nov 26. Nucleic Acids Res. 2014. PMID: 24285300 Free PMC article. - The mouse genome database (MGD): new features facilitating a model system.
Eppig JT, Blake JA, Bult CJ, Kadin JA, Richardson JE; Mouse Genome Database Group. Eppig JT, et al. Nucleic Acids Res. 2007 Jan;35(Database issue):D630-7. doi: 10.1093/nar/gkl940. Epub 2006 Nov 29. Nucleic Acids Res. 2007. PMID: 17135206 Free PMC article. - The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease.
Eppig JT, Blake JA, Bult CJ, Kadin JA, Richardson JE; Mouse Genome Database Group. Eppig JT, et al. Nucleic Acids Res. 2015 Jan;43(Database issue):D726-36. doi: 10.1093/nar/gku967. Epub 2014 Oct 27. Nucleic Acids Res. 2015. PMID: 25348401 Free PMC article. - Mouse Genome Database: From sequence to phenotypes and disease models.
Eppig JT, Richardson JE, Kadin JA, Smith CL, Blake JA, Bult CJ; MGD Team. Eppig JT, et al. Genesis. 2015 Aug;53(8):458-73. doi: 10.1002/dvg.22874. Epub 2015 Jul 27. Genesis. 2015. PMID: 26150326 Free PMC article. Review. - Mouse Genome Informatics (MGI) Is the International Resource for Information on the Laboratory Mouse.
Law M, Shaw DR. Law M, et al. Methods Mol Biol. 2018;1757:141-161. doi: 10.1007/978-1-4939-7737-6_7. Methods Mol Biol. 2018. PMID: 29761459 Review.
Cited by
- Artefacts in Volume Data Generated with High Resolution Episcopic Microscopy (HREM).
Reissig LF, Geyer SH, Rose J, Prin F, Wilson R, Szumska D, Galli A, Tudor C, White JK, Mohun TJ, Weninger WJ. Reissig LF, et al. Biomedicines. 2021 Nov 18;9(11):1711. doi: 10.3390/biomedicines9111711. Biomedicines. 2021. PMID: 34829939 Free PMC article. - Susceptibility of different mouse strains to peri-implantitis.
Hiyari S, Naghibi A, Wong R, Sadreshkevary R, Yi-Ling L, Tetradis S, Camargo PM, Pirih FQ. Hiyari S, et al. J Periodontal Res. 2018 Feb;53(1):107-116. doi: 10.1111/jre.12493. Epub 2017 Oct 17. J Periodontal Res. 2018. PMID: 29044525 Free PMC article. - Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse.
Eppig JT. Eppig JT. ILAR J. 2017 Jul 1;58(1):17-41. doi: 10.1093/ilar/ilx013. ILAR J. 2017. PMID: 28838066 Free PMC article. Review. - A flexible method for estimating the fraction of fitness influencing mutations from large sequencing data sets.
Moon S, Akey JM. Moon S, et al. Genome Res. 2016 Jun;26(6):834-43. doi: 10.1101/gr.203059.115. Epub 2016 Apr 14. Genome Res. 2016. PMID: 27197222 Free PMC article. - AURA 2: Empowering discovery of post-transcriptional networks.
Dassi E, Re A, Leo S, Tebaldi T, Pasini L, Peroni D, Quattrone A. Dassi E, et al. Translation (Austin). 2014 Jan 29;2(1):e27738. doi: 10.4161/trla.27738. eCollection 2014. Translation (Austin). 2014. PMID: 26779400 Free PMC article.