All Phenotypes Vhl<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Vhl⁺
wild type
MGI:2154489

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Vhl^tm1.1Jae/Vhl⁺	involves: 129S4/SvJae * BALB/c	MGI:2174802
ht2	Vhl^tm1Wml/Vhl⁺	involves: 129S4/SvJae * C57BL/6	MGI:5766045
ht3	Vhl^tm1.1Wkr/Vhl⁺	involves: 129S4/SvJae * C57BL/6	MGI:4436912
ht4	Vhl^tm1.1Lss/Vhl⁺	involves: A/J	MGI:2677768
ht5	Vhl^tm1.1Lss/Vhl⁺	involves: BALB/c	MGI:2677767

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhl^tm1.1Jae mutation (0 available); any Vhl mutation (17 available)

♀	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

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

Allelic Composition	Vhl^tm1Wml/Vhl⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhl^tm1Wml mutation (0 available); any Vhl mutation (17 available)

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

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:88492 )

• increased incidence of vascular neoplasms in the liver, uterus, ovary, spleen and heart in response to streptozotocin, compared to controls

• highest incidence and number found in liver

• lesions seen: angiectasia, hemangisarcoma, hemangioma

• no increase in renal lesions in response to streptozotocin, compared to controls

neoplasm

increased incidence of tumors by chemical induction ( J:88492 )

• increased incidence of vascular neoplasms in the liver, uterus, ovary, spleen and heart in response to streptozotocin, compared to controls

• highest incidence and number found in liver

• lesions seen: angiectasia, hemangisarcoma, hemangioma

• no increase in renal lesions in response to streptozotocin, compared to controls

Allelic Composition	Vhl^tm1.1Wkr/Vhl⁺
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhl^tm1.1Wkr mutation (1 available); any Vhl mutation (17 available)

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

cardiovascular system

abnormal blood vessel morphology ( J:157369 )

• enlarged blood vessels in kidneys and adrenal glands at 12 months of age

renal/urinary system

kidney cortex cyst ( J:157369 )

• renal cortical microcysts found at 12 months

liver/biliary system

liver/biliary system phenotype ( J:157369 )

N	• normal liver histology at 12 months

neoplasm

increased incidence of tumors by chemical induction ( J:157369 )

increased adenocarcinoma incidence ( J:157369 )

• adenocarcinoma

preneoplasia ( J:157369 )

• in kidney papillary cysts as a result of transplacental ENU mutagenesis

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:157369 )

growth/size/body

kidney cortex cyst ( J:157369 )

• renal cortical microcysts found at 12 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:157369

Allelic Composition	Vhl^tm1.1Lss/Vhl⁺
Genetic Background	involves: A/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhl^tm1.1Lss mutation (0 available); any Vhl mutation (17 available)

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

liver/biliary system

abnormal liver morphology ( J:85513 )

• 66% showed hepatic vascular lesions on a A/J genetic background

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

Allelic Composition	Vhl^tm1.1Lss/Vhl⁺
Genetic Background	involves: BALB/c

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhl^tm1.1Lss mutation (0 available); any Vhl mutation (17 available)

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

neoplasm

increased hepatic hemangioma incidence ( J:85513 )

• 88% showed hepatic hemangiomas by 18 months of age, on a BALB/c genetic background

liver/biliary system

increased hepatic hemangioma incidence ( J:85513 )

• 88% showed hepatic hemangiomas by 18 months of age, on a BALB/c genetic background

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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