在染色体15的100,959,664位点,这个自发的C到T突变(在GRCm38建模下),导致了在蛋白质位置226上的一个终止密码子(arginine替换为Cga>Tga)的无义突变(p.R226*),参考文献为J:222308和J:231578。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129S7-Itgb2tm1Bay/J
Spontaneous
单点
隐性
1
11
1

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
No Data Found!
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