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The mutation is a 14.3 kb deletion of the tyrosinase gene spanning from 940 bp 5' of exon 1 (including the minimal promoter region) to 3.75 kb 3' of exon 2. This mutation arose spontaneously in EUCOMM embryonic stem (ES) cell clone EPD0176_3_A10, which was produced from JM8.N4 embryonic stem (ES) cells. (J:188986)
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
