Phenotypes associated with this allele

• Allele Symbol: Gck^tm1Efr
• Allele Name: targeted mutation 1, Shimon Efrat
• Allele ID: MGI:1861929
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gck^tm1Efr/Gck^tm1Efr	involves: 129P2/OlaHsd * C57BL/6	MGI:2176959
ht2	Gck^tm1Efr/Gck^+	involves: 129P2/OlaHsd * C57BL/6	MGI:2176960

Genotype
MGI:2176959

hm1

• Allelic Composition: Gck^tm1Efr/Gck^tm1Efr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:28756 )

• about 1/3 of mutant embryos are resorbed starting at E9.5

Genotype
MGI:2176960

ht2

• Allelic Composition: Gck^tm1Efr/Gck⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

homeostasis/metabolism

abnormal glucose homeostasis ( J:28756 )

• heterozygotes exhibit abnormal hepatic glucose metabolism: hyperglycemia and hyperinsulinemia reduce hepatic glucose production by only 47% vs 72% in wild-type mice

• also, the fraction of hepatic UDPG pool derived from plasma glucose via the "direct" pathway is significantly reduced relative to wild-type

hyperglycemia ( J:28756 )

• at 5-6 months, heterozygous males show normoglycemia in the fed state

• however, heterozygotes show a mild (25%) increase in overnight fasting glucose levels relative to wild-type mice

• in contrast, plasma insulin levels remain unchanged relative to wild-type in both the fed and fasted state

impaired glucose tolerance ( J:28756 )

• heterozygotes display reduced tolerance to glucose relative to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
maturity-onset diabetes of the young type 2		DOID:0111100	OMIM:125851	J:28756