在exon 7的C到A替换突变导致了一个终止密码子,将酪氨酸替换为终止于第273位的氨基酸,这产生了非同义突变。实时PCR和免疫印迹结果显示,肝脏中Gck mRNA、蛋白表达和活性均下降。(来源:J:88919, J:137483)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
单点
显性
1
11
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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