这种突变是在一个ENU诱变筛选中发现的,涉及到了第4外显子中的一个T到C转换,导致蛋白质第127位的丝氨酸被脯氨酸替换(S127P,引用自J:137483)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JJcl
Chemically induced
单点
半显性
1
11
1

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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