ENU治疗导致编码mRNA的第238位发生C到T的突变,导致密码子80由arginine变为终止密码子(p.R80*)。如果这个肽被翻译,将缺失参与鸟嘌呤核苷酸和Rab效应器结合的必需区域。(来源:J:70423)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
隐性
1
1
14

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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