All Phenotypes Hnf4a<tm1.1Gonz> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Hnf4a^tm1.1Gonz/Hnf4a^tm1.1Gonz Tg(Ins2-cre)25Mgn/0	involves: 129X1/SvJ * C57BL/6 * DBA	MGI:3653173
cn2	Hnf4a^tm1.1Gonz/Hnf4a^tm1.1Gonz Tg(Alb1-cre)1Dlr/0	involves: 129X1/SvJ * FVB/N	MGI:3653184

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf4a^tm1.1Gonz mutation (1 available); any Hnf4a mutation (27 available)
Tg(Ins2-cre)25Mgn mutation (2 available)

♀	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

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

mortality/aging

premature death ( J:67396 )

• by 8 weeks of age mortality is over 70%

growth/size/body

weight loss ( J:67396 )

• at 5 weeks of age, mice begin to lose weight

enlarged liver ( J:67396 )

homeostasis/metabolism

decreased circulating cholesterol level ( J:67396 )

• sera levels are dramatically reduced relative to controls

decreased circulating HDL cholesterol level ( J:67396 )

• sera levels are dramatically reduced relative to controls

decreased circulating triglyceride level ( J:67396 )

• sera levels are dramatically reduced relative to controls

liver/biliary system

abnormal liver morphology ( J:67396 )

• liver has a gray, mottled appearance; marked pathological lesions are evident

enlarged liver ( J:67396 )

abnormal hepatocyte morphology ( J:67396 )

• hepatocytes are markedly vacuolated with material in vacuoles staining positive for fat; centrolobular hepatocytes are invariably hypertrophic with pale eosinophilic cytoplasmic inclusions

• most hepatocytes have large mitochondria and abundant lipid droplets while others both had lipid droplets and abundant glycogen-like material

abnormal hepatocyte mitochondrial morphology ( J:67396 )

cellular

abnormal hepatocyte mitochondrial morphology ( J:67396 )

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 08/02/2024 MGI 6.24