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中文
在cDNA的第12外显子2548位，单个核苷酸突变(T>C)导致终止密码子764从TAA变为CAA，这修复了完整的开放阅读框。这种野生型(编码)等位基因存在于20个非黑人/6个菌株中。T变异仅在B6和BTBR T+ Itprtf/J(杰克逊品系：002282)这两个特定菌株中发现。(来源：J:245487)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
