|
|
| Nomenclature |
|
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:
Chr15:101845428-101850786 bp, - strand
Genetic Position: Chr15,
57.06 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
C3HeB/FeJ
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: A 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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)
|
|
Analysis Tools
