Phenotypes associated with this allele

• Allele Symbol: Vhl^tm1.1Jae
• Allele Name: targeted mutation 1.1, Rudolf Jaenisch
• Allele ID: MGI:2136646
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vhl^tm1.1Jae/Vhl^tm1.1Jae	involves: 129S4/SvJae * BALB/c	MGI:2174801
ht2	Vhl^tm1.1Jae/Vhl^+	involves: 129S4/SvJae * BALB/c	MGI:2174802

Genotype
MGI:2174801

hm1

• Allelic Composition: Vhl^tm1.1Jae/Vhl^tm1.1Jae
• Genetic Background: involves: 129S4/SvJae * BALB/c

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:67505 )

• die between E9 and E11

Genotype
MGI:2174802

ht2

• Allelic Composition: Vhl^tm1.1Jae/Vhl⁺
• Genetic Background: involves: 129S4/SvJae * BALB/c

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

neoplasm

increased hepatic hemangioma incidence ( J:67505 )

• carvernous hemangiomas are found in 50% of heterozygotes between 3 and 12 months of age and in 90% between 12 and 17 months of age

• in extreme cases the hemangioma affects the entire liver

• associated with steatosis and focal proliferation of small vessels and spindle cells

liver/biliary system

hepatic steatosis ( J:67505 )

• associated with hemangiomas

increased hepatic hemangioma incidence ( J:67505 )

• carvernous hemangiomas are found in 50% of heterozygotes between 3 and 12 months of age and in 90% between 12 and 17 months of age

• in extreme cases the hemangioma affects the entire liver

• associated with steatosis and focal proliferation of small vessels and spindle cells

cardiovascular system

abnormal blood vessel morphology ( J:67505 )

• focal proliferation of small vessels in the liver

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:67505