Phenotypes Associated with This Genotype

Genotype
MGI:2176966

• Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA

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

Vascular tumors in Vhl^tm1.1Jae/Vhl⁺ livers and vascular lesions in Vhl^tm1Jae/Vhl^tm1Jae Speer6-ps1^{Tg(Alb-cre)21Mgn}/0 mice

mortality/aging

premature death ( J:67505 )

• die between 6 and 13 weeks of age

growth/size/body

decreased body weight ( J:67505 )

• body weight is about 50% of wild-type

enlarged liver ( J:67505 )

• severe

liver/biliary system

abnormal liver morphology ( J:67505 )

• numerous blood filled vascular cavities, but no large cavernous hemangiomas, are seen

enlarged liver ( J:67505 )

• severe

hepatic steatosis ( J:67505 , J:97652 )

• accumulation of neutral fats in hepatocytes is detectable by 2 weeks of age (J:67505)

• severe steatosis (J:97652)

cardiovascular system

abnormal blood vessel morphology ( J:67505 )

• foci of increased vascularization are present in the liver

increased vascular endothelial cell number ( J:97652 )

• proliferation of endothelial cells in hepatic blood vessels

abnormal vasodilation ( J:97652 )

• hepatic vascular angiectasia

hematopoietic system

polycythemia ( J:67505 )

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:67505 , J:97652