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在22号内含子和23号外显子之间发生了一个1440bp的缺失。结果，mRNA中保留了22号外显子的捐赠位点以及接下来的4个碱基。这导致了一个早发性终止密码子。由此产生的mRNA比正常情况短500个碱基，蛋白质产品减少了91个氨基酸。第八个跨膜域后的两个胞质区氨基酸被翻译。将突变型的转基因小鼠导入确认了这种自发突变的性质。(来源：J:105797)
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
