Gck^tm1Ydor

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Species

Mus musculus

Symbol

Gck^tm1Ydor

Category

allele

Allele of gene

Gck

Transgenic Constructs

None

Synonyms

• mutGCK

Description

The targeting vector contains a mutated exon 10, in which three nucleotides CGG were introduced into amino acid 454 resulting in the insertion of an alanine at this position, followed by IRES-AcGFP immediately downstream to the native exon 10, which was flanked by loxP sites and an FRT-flanked neomycin gene. The cassette was inserted distal to exon 9. Upon cre-mediated recombination, the native exon 10 is removed and the mutant exon 10 is expressed. The ins454A activating mutation has been identified in a glucokinase mutation mediated congenital hyperinsulinism patient and it increases GCK affinity for glucose resulting in a decreased threshold for glucose-stimulated insulin secretion. Although AcGFP mRNA expression is detected, AcGFP protein is not.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations