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中文
第六外显子被替换为一个，其中引入了三个无义突变，以在诊断上增加Bsp1286I限制酶识别位点，另外两个突变导致第130位的氨基酸由异亮氨酸替换为苯丙氨酸( I130A)。通过Cre介导的重组，去除了在修改后第六外显子下游插入的floxed neo cassette。(来源：J:186252)
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
