Log In|Sign Up
EN
G to T transversion in the first exon at a beta cell specific splice donor site (IVS1A+1) was found. No change in liver Gck mRNA expression, protein expression, or activity was detected. 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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
