这种突变是在一个ENU诱变筛选中被发现的,它发生在1190号核苷酸上,导致一个A替换为T的转换,进而使得蛋白质的第367位由异亮氨酸替换为苯丙氨酸(I367F)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6Apb
Chemically induced
单点
隐性
1
6
2

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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