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Phenotypes Associated with This Genotype
Genotype
MGI:2677759
Allelic
Composition		 Vhltm1Lss/Vhltm1.1Lss
Tg(ACTB-cre)1Tes/0
Genetic
Background		 involves: 129X1/SvJ * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(ACTB-cre)1Tes mutation (0 available)
Vhltm1.1Lss mutation (0 available); any Vhl mutation (16 available)
Vhltm1Lss mutation (0 available); any Vhl mutation (16 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:85513 )
• mice began to die after 3 months of age
• 50% mortalitiy exhibited by 7 months of age
• 90% mortalitiy by 1 year of age

reproductive system
oligozoospermia ( J:85513 )
• 30-fold reduction in sperm count relative to wild-type
multinucleated giant male germ cells ( J:85513 )
• abnormal sperm maturation with multinucleated giant cells
seminiferous tubule degeneration ( J:85513 )
• enlarged blood vessels in the connective tissue surrounding the tubules
• tubule atrophy and collapse

neoplasm
increased hepatic hemangioma incidence ( J:85513 )
• all mice displayed grossly visible hemangiomas by 1 year of age

cardiovascular system
abnormal blood vessel morphology ( J:85513 )
• frequent angiectasis in the liver and with lesser penetrance in the kidneys
• increased vasculature of the pancreas
• no vascular lesions observed in the brain, ovary, or adrenal glands
abnormal angiogenesis ( J:85513 )
• limited new blood vessel formation in the liver
• angiogenesis observed the cardiac muscle of 8 of 10 mice examined

liver/biliary system
abnormal liver morphology ( J:85513 )
• livers were irregularly shaped and had vascular lesions containing large, thin-walled vessels filled with blood
increased hepatic hemangioma incidence ( J:85513 )
• all mice displayed grossly visible hemangiomas by 1 year of age

endocrine/exocrine glands
seminiferous tubule degeneration ( J:85513 )
• enlarged blood vessels in the connective tissue surrounding the tubules
• tubule atrophy and collapse

cellular
oligozoospermia ( J:85513 )
• 30-fold reduction in sperm count relative to wild-type
multinucleated giant male germ cells ( J:85513 )
• abnormal sperm maturation with multinucleated giant cells

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
von Hippel-Lindau disease DOID:14175 OMIM:193300
 J:85513

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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory