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Phenotypes Associated with This Genotype
Genotype
MGI:3621471
Allelic
Composition		 Hif1atm3Rsjo/Hif1atm3Rsjo
Vhltm1Jae/Vhltm1Jae
Speer6-ps1Tg(Alb-cre)21Mgn/Speer6-ps1+
Genetic
Background		 involves: 129 * BALB/c * C57BL/6 * DBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hif1atm3Rsjo mutation (3 available); any Hif1a mutation (50 available)
Speer6-ps1Tg(Alb-cre)21Mgn mutation (6 available); any Speer6-ps1 mutation (4 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (17 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
liver/biliary system
hepatic steatosis ( J:97652 )
• severe steatosis

cardiovascular system
increased vascular endothelial cell number ( J:97652 )
• proliferation of endothelial cells in hepatic blood vessels
abnormal vasodilation ( J:97652 )
• hepatic vascular angiectasia

muscle
abnormal vasodilation ( J:97652 )
• hepatic vascular angiectasia

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
 J:97652

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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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory