cpk鼠的表型由一个12bp和19bp的重复缺失突变引起,导致外显子1内的移位,进而截断了蛋白质。肾脏和肝脏的Northern分析显示,纯合突变个体中该转录本的量相较于野生型显著降低。(来源:J:74701)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.Cg-Bloc1s6pa
Spontaneous
基因内删除
隐性
1
1
54

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
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