Phenotypes associated with this allele

• Allele Symbol: Vhl^tm1Wml
• Allele Name: targeted mutation 1, W Marston Linehan
• Allele ID: MGI:1857702
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vhl^tm1Wml/Vhl^tm1Wml	involves: 129S4/SvJae * C57BL/6	MGI:2176441
ht2	Vhl^tm1Wml/Vhl^+	involves: 129S4/SvJae * C57BL/6	MGI:5766045

Genotype
MGI:2176441

hm1

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

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

Placental histopathology of normal and Vhl^tm1Wml/Vhl^tm1Wml embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:42486 )

• death between E10.5 and E12.5, likely due to abnormal placental development

embryo

abnormal placental labyrinth vasculature morphology ( J:42486 )

• failed embryonic vasculogenesis, with hemorrhage evident by E11.5 to E12.5

• lacked embryonic endothelium and blood vessels

placenta hemorrhage ( J:42486 )

• hemorrhagic placenta

abnormal trophoblast layer morphology ( J:42486 )

• appeared normal until E9.5, but did not progress developmentally

abnormal placenta development ( J:42486 )

• evident between E9.5 and E10.5

cardiovascular system

abnormal placental labyrinth vasculature morphology ( J:42486 )

• failed embryonic vasculogenesis, with hemorrhage evident by E11.5 to E12.5

• lacked embryonic endothelium and blood vessels

placenta hemorrhage ( J:42486 )

• hemorrhagic placenta

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:42846 , J:88492

Genotype
MGI:5766045

ht2

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

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