Phenotypes Associated with This Genotype

Genotype
MGI:3653173

• Allelic Composition: Hnf4a^tm1.1Gonz/Hnf4a^tm1.1Gonz; Tg(Ins2-cre)25Mgn/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * DBA

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

homeostasis/metabolism

decreased circulating insulin level ( J:108652 )

• at 10 weeks of age, females exhibit poor initial response of insulin secretion after receiving a glucose load; at 24 weeks, both males and females exhibit an impaired insulin response

• insulin secretion in response to high glucose levels is reduced in perfused islets from knockouts

impaired glucose tolerance ( J:108652 )

• glucose level at 12, 30, 60 and 120 minutes after administration of a glucose load are higher in females at 10 weeks compared to controls; at 24 weeks both males and females exhibit glucose intolerance

nervous system

abnormal channel response ( J:108652 )

• K_ATP activity is reduced in knockouts; decreased response leads to impaired insulin secretion

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
maturity-onset diabetes of the young type 1		DOID:0111099	OMIM:125850	J:108652