在β细胞特异的剪接起始点(IVS1A+1)处,发现了一个G到T的转换变异。在肝脏中,Gck的mRNA表达、蛋白表达和活性都没有变化。这种突变在人类的MODY2患者中也已被发现。(引用: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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