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中文
在第301位后2个碱基的A到T转换，导致了3号外显子末尾的splice donor site发生异常，进而产生了85个碱基的内含子序列插入，同时引入了一个终止密码，产生了严重缩短的蛋白质。(来源：J:100119)
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
