Phenotypes Associated with This Genotype

Genotype
MGI:3621461

• Allelic Composition: Hif1a^tm3Rsjo/Hif1a^tm3Rsjo; Hprt1^{tm1(Pck1-cre)Vhh}/Y; Vhl^tm1Jae/Vhl^tm1Jae
• Genetic Background: involves: 129 * BALB/c * C57BL/6

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

renal/urinary system

kidney inflammation ( J:106705 )

♂ • pockets of inflammation

abnormal kidney morphology ( J:106705 )

♂ • dilated lymphatic vessels

abnormal kidney vasculature morphology ( J:106705 )

♂ • vascular ectasia

kidney cyst ( J:106705 )

♂ • unilateral and bilateral macroscopic cysts that vary in number and size are seen in 3 of 10 mice

♂ • multiple microscopic cysts are also seen with 3 of 10 having cysts of tubular origin and 7 of 10 having cysts of glomerular origin

♂ • cysts of both tubular and glomerular origin may occur in the same mouse

liver/biliary system

hepatic steatosis ( J:97652 )

♂

increased hepatic hemangioma incidence ( J:97652 )

♂ • cavernous hepatic hemangiomas seen in mice at 2 - 6 months of age and with increased frequency in mice older than 6 months

cardiovascular system

increased vascular endothelial cell number ( J:97652 )

♂ • proliferation of endothelial cells in hepatic blood vessels

abnormal kidney vasculature morphology ( J:106705 )

♂ • vascular ectasia

abnormal vasodilation ( J:97652 )

♂ • hepatic vascular angiectasia

neoplasm

increased hepatic hemangioma incidence ( J:97652 )

♂ • cavernous hepatic hemangiomas seen in mice at 2 - 6 months of age and with increased frequency in mice older than 6 months

hematopoietic system

polycythemia ( J:97652 )

♂ • average red blood cell count is 10.77 x 10⁶ compared to 9.3 x 10⁶ in controls

♂ • develop erythrocytosis as indicated by reddening of paws and muzzle

increased hemoglobin content ( J:97652 )

♂ • hemoglobin content is 19.38 g/dl compared to 13.24 g/dl in controls

immune system

kidney inflammation ( J:106705 )

♂ • pockets of inflammation

muscle

abnormal vasodilation ( J:97652 )

♂ • hepatic vascular angiectasia

growth/size/body

kidney cyst ( J:106705 )

♂ • unilateral and bilateral macroscopic cysts that vary in number and size are seen in 3 of 10 mice

♂ • multiple microscopic cysts are also seen with 3 of 10 having cysts of tubular origin and 7 of 10 having cysts of glomerular origin

♂ • cysts of both tubular and glomerular origin may occur in the same mouse

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:97652 , J:106705