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 (28 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)
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