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中文
这种表型突变是在一个ENU诱变筛选中发现的。分子突变发生在基因的第五外显子(位置GRCm38/mm10的11:80,817,609)，是一个T到C的替换。这导致编码蛋白质中非极性脂肪族氨基酸异亮氨酸被极性氨基酸丝氨酸替换(等电点p.I135T)。(来源：J:277123)
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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| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
