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中文
外显子3被替换为一个，其中的核苷酸替换导致了第109位氨基酸由甲硫氨酸(M109)替换为亮氨酸(Leu)。下游的floxed neo cassette通过Cre介导的重组被去除了。对四头肌肌肉提取物进行的 Western blot 分析证实了蛋白表达的缺失。(来源：J:179839)
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
