Abstract
The International Mouse Phenotyping Consortium (IMPC) continues to expand the catalogue of mammalian gene function by conducting genome and phenome-wide phenotyping on knockout mouse lines. The extensive and standardized phenotype screens allow the identification of new potential models for human disease through cross-species comparison by computing the similarity between the phenotypes observed in the mutant mice and the human phenotypes associated to their orthologous loci in Mendelian disease. Here, we present an update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported. With approximately one-third of human Mendelian genes with orthologous null mouse phenotypes described, the range of available models relevant for human diseases keeps increasing. Among the breadth of new data, we identify previously uncharacterized disease genes in the mouse and additional phenotypes for genes with existing mutant lines mimicking the associated disorder. The automated and unbiased discovery of relevant models for all types of rare diseases implemented by the IMPC constitutes a powerful tool for human genetics and precision medicine.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 143-150 |
| Number of pages | 8 |
| Journal | Mammalian Genome |
| Volume | 30 |
| Issue number | 5-6 |
| DOIs | |
| State | Published - Jun 1 2019 |
Fingerprint
ASJC Scopus subject areas
- Genetics
Cite this
New models for human disease from the International Mouse Phenotyping Consortium. / the International Mouse Phenotyping Consortium and the Monarch Initiative.
In: Mammalian Genome, Vol. 30, No. 5-6, 01.06.2019, p. 143-150.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - New models for human disease from the International Mouse Phenotyping Consortium
AU - the International Mouse Phenotyping Consortium and the Monarch Initiative
AU - Cacheiro, Pilar
AU - Haendel, Melissa A.
AU - Smedley, Damian
AU - Meehan, Terrence
AU - Mason, Jeremy
AU - Mashhadi, Hamed Haseli
AU - Muñoz-Fuentes, Violeta
AU - Tocchini, Glauco
AU - Lloyd, Kevin C K
AU - McKerlie, Colin
AU - Bower, Lynette
AU - Clary, Dave
AU - Nutter, Lauryl M.J.
AU - Flenniken, Ann M.
AU - Teboul, Lydia
AU - Codner, Gemma
AU - Wells, Sara
AU - Herault, Yann
AU - Sorg, Tania
AU - Vasseurm, Laurent
AU - Selloum, Mohammed
AU - Roux, Michel
AU - Jacobs, Hugues
AU - Meziane, Hamid
AU - Champy, Marie France
AU - About, Ghina Bou
AU - Murray, Steve
AU - Chesler, Elissa
AU - Kumar, Vivek
AU - White, Jacqui
AU - Braun, Robert E.
AU - Beaudet, Arthur L.
AU - Dickinson, Mary E.
AU - Heaney, Jason D.
AU - Lorenzo, Isabel
AU - Lanza, Denise G.
AU - Reynolds, Corey L.
AU - Ward, Christopher S.
AU - Samaco, Rodney C.
AU - Veeraragavan, Surabi
AU - Hsu, Chih Wei
AU - Christianson, Audrey E.
AU - Gallegos, Juan J.
AU - Seavitt, John Richard
AU - Gaspero, Angelina
AU - Green, Jennie R.
AU - Garza,
AU - Garza, Arturo
AU - Bohat, Ritu
AU - Sedlacek, Radislav
PY - 2019/6/1
Y1 - 2019/6/1
N2 - The International Mouse Phenotyping Consortium (IMPC) continues to expand the catalogue of mammalian gene function by conducting genome and phenome-wide phenotyping on knockout mouse lines. The extensive and standardized phenotype screens allow the identification of new potential models for human disease through cross-species comparison by computing the similarity between the phenotypes observed in the mutant mice and the human phenotypes associated to their orthologous loci in Mendelian disease. Here, we present an update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported. With approximately one-third of human Mendelian genes with orthologous null mouse phenotypes described, the range of available models relevant for human diseases keeps increasing. Among the breadth of new data, we identify previously uncharacterized disease genes in the mouse and additional phenotypes for genes with existing mutant lines mimicking the associated disorder. The automated and unbiased discovery of relevant models for all types of rare diseases implemented by the IMPC constitutes a powerful tool for human genetics and precision medicine.
AB - The International Mouse Phenotyping Consortium (IMPC) continues to expand the catalogue of mammalian gene function by conducting genome and phenome-wide phenotyping on knockout mouse lines. The extensive and standardized phenotype screens allow the identification of new potential models for human disease through cross-species comparison by computing the similarity between the phenotypes observed in the mutant mice and the human phenotypes associated to their orthologous loci in Mendelian disease. Here, we present an update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported. With approximately one-third of human Mendelian genes with orthologous null mouse phenotypes described, the range of available models relevant for human diseases keeps increasing. Among the breadth of new data, we identify previously uncharacterized disease genes in the mouse and additional phenotypes for genes with existing mutant lines mimicking the associated disorder. The automated and unbiased discovery of relevant models for all types of rare diseases implemented by the IMPC constitutes a powerful tool for human genetics and precision medicine.
UR - http://www.scopus.com/inward/record.url?scp=85066272805&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85066272805&partnerID=8YFLogxK
U2 - 10.1007/s00335-019-09804-5
DO - 10.1007/s00335-019-09804-5
M3 - Review article
C2 - 31127358
AN - SCOPUS:85066272805
VL - 30
SP - 143
EP - 150
JO - Mammalian Genome
JF - Mammalian Genome
SN - 0938-8990
IS - 5-6
ER -