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中文
这种突变是在基因的第十号外显子中插入了81个碱基对，与LINE L1元素有相似性。RT-PCR和测序结果显示，这导致转录本的剪接异常，mRNA中缺失了由第十号外显子编码的前30个核苷酸。由此产生的蛋白会缺少第二个跨膜结构的羧基端部分。（来源：J:69983）
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 |
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References Literature
Title
PMID
Journal
Year
IF
