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Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program
John P Sundberg1, Soheil S Dadras2, Kathleen A Silva1
1The Jackson Laboratory, Bar Harbor, Maine, United States of America.
Plos One
|July 13, 2017
Summary
The International Knockout Mouse Consortium generated 3,100 knockout mouse strains, but few showed skin or adnexal diseases. Researchers suggest alternative methods for identifying human disease models.
Area of Science:
- Genetics and Genomics
- Dermatology
- Developmental Biology
Background:
- The International Knockout Mouse Consortium (IKMC) aims to inactivate all protein-coding genes in the mouse genome.
- Mouse models are crucial for understanding human genetic diseases, including skin and adnexal disorders.
Purpose of the Study:
- To assess the frequency of skin and adnexal phenotypes in IKMC-generated knockout mouse strains.
- To identify potential mouse models for human skin and adnexal diseases.
Main Methods:
- Generation and phenotyping of over 3,100 knockout mouse strains by the IKMC.
- Collection and histopathological examination of skin and adnexa from representative retired breeder mice.
- Review of 169 novel mutant lines for skin and adnexal abnormalities.
Main Results:
- Only one of 169 reviewed mutant lines exhibited a minor sebaceous gland abnormality with follicular dystrophy (B6N(Cg)-Far2tm2b(KOMP)Wtsi/2J).
- A second line (B6N(Cg)-Ppp1r19btm1.1(KOMP)Vlcg/J) showed a nonspecific follicular dystrophy in vibrissae.
- A low frequency of clinically relevant skin and adnexal phenotypes was observed.
Conclusions:
- The IKMC project has yielded a limited number of mouse models for skin and adnexal diseases compared to human Mendelian conditions.
- Potential reasons for the low frequency include genetic background effects and the specific phenotyping strategies employed.
- Alternative approaches are needed to effectively identify human disease-relevant models from large-scale knockout projects.
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