这种基因的G到A的突变,发生在转录本的第599/1394/1424位编码核苷酸,预测会导致编码蛋白质的Trp(tryptophan)的200/465/475位点过早终止(表现为W200*, W465*, W475*),对应的蛋白序列为NM_080465/ENSMUST00000066890/NM_001312905的NP_536713、ENSMUSP00000067884和NP_001299834。来源:(J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeSn
Spontaneous
单点
隐性
1
3
2

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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