通过筛选寻找晚期肾病模型小鼠,研究人员偶然发现了ENU诱发的突变,这个突变位于基因1198位,导致G变为T,氨基酸400由甘氨酸变为终止密码子(p.G400*)。对肾脏的免疫荧光染色确认了纯合子小鼠肾单位中蛋白的缺失。(来源:J:285510)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
--
1
10
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
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