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中文
核苷酸替换（CCT替换为GGC）导致在第1位（P1G）位置的氨基酸从甘氨酸变为脯氨酸。在第3外显子下游插入了一个自我剪切的neo cassette，经过生殖细胞传递后成功自剪切。该蛋白的酶活性缺失。（来源：J:147772）
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
