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Krt1Mhdadsk12
Chemically induced Allele Detail
Summary
Symbol: Krt1Mhdadsk12
Name: keratin 1; Martin Hrabe de Angelis dark skin 12
MGI ID: MGI:3655853
Synonyms: dark skin 12, Dsk12, Krt1Dsk12
Gene: Krt1  Location: Chr15:101753861-101759221 bp, - strand  Genetic Position: Chr15, 57.06 cM
Alliance: Krt1Mhdadsk12 page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA T-to-C transition mutation at codon 194 results in a serine to proline amino acid substitution in the encoded protein. This mutation is predicted to disrupt acidic-basic keratin interactions during intermediate filament formation. (J:108758)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Krt1 Mutation:  68 strains or lines available
References
Original:  J:108758 McGowan KA, et al., A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. J Invest Dermatol. 2006 May;126(5):1013-6
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory