Phenotypes associated with this allele

• Allele Symbol: Vhl^tm1.1Wkr
• Allele Name: targeted mutation 1.1, WK Rathmell
• Allele ID: MGI:4436910
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vhl^tm1.1Wkr/Vhl^tm1.1Wkr	involves: 129S4/SvJae * C57BL/6	MGI:4436911
ht2	Vhl^tm1.1Wkr/Vhl^+	involves: 129S4/SvJae * C57BL/6	MGI:4436912

Genotype
MGI:4436911

hm1

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

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:157369 )

• near normal numbers of homozygotes at E9.5

• only about 3% of embryos at E10.5 are homozygotes

Genotype
MGI:4436912

ht2

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

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