ENU诱变产生了在exon 2的一个T到C的点突变,导致了移框突变和早停密码子,这导致了蛋白质在lysine 50处被截断。 Western blot结果显示肝脏和肾脏中没有蛋白表达(来源:J:222356)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Chemically induced
单点
隐性
1
1
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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