在染色体15(GRCm38)的92,250,964位点,一个自发的G变A突变导致了转录密码的改变,从色氨酸(Trp)变为一个早停密码子(W364*)。用来自同源个体大脑或脊髓组织的 Western blot 检测并未发现这个蛋白质,尝试从cDNA中扩增这段基因的片段也未成功。(引用文献:J:178817, J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BALB/cJ
Spontaneous
单点
隐性
1
1
3

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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