这种白化基因突变的具体类型是G到C的转换,导致第103位或第85位氨基酸从 cysteine 变成 serine(在前体蛋白中为p.C103S,成熟蛋白中为p.C85S)。这个突变引入了一个DdeI酶的限制性切点(来源:J:10889, J:40223)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
old mutant of the mouse fancy
Spontaneous
单点
隐性
1
14
32

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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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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