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G to A transition in exon 5 results in a missense mutation and substitution of methionine for valine at amino acid 182. Real time PCR and immunoblotting found no change in liver Gck mRNA and protein expression however liver Gck activity was reduced. This same mutation is found in human MODY2 patients (J:88919, J:137483)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
