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This allele represents two point mutations that are found in the PWD and PWK strains: chrX:g.66655874A>G (the minor variants of SNP rs29051074; changes codon 657 from asparagine to serine (p.N657S)) and 66656111A>G (changes codon 736 from tyrosine to cysteine (p.Y736C) (GRCm38 coordinates). (J:292550)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
