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中文
在Clcn1基因的第47位(由C变为T的替换)发生了一个无意义突变，导致arginine被一个终止密码子替换，这个终止密码位于第一个跨膜区域之前。对成年骨骼肌进行的Northern分析，使用来自5'和3'的猪cDNA Clcn1探针，检测到纯合突变小鼠中野生型大小的转录本(来自文献J:752)。(文献J:16954)
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
