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The mutation comprises a T-to-A transversion at coding nucleotide 1280 of mRNA NM_011661, in the fourth of the gene's five exons (Chr7:87438023 GRCm38). It causes replacement of valine by aspartic acid at amino acid 427 of the tyrosinase protein (p.V427D). (J:159360)
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
