Phenotypes Associated with This Genotype

Genotype
MGI:3844065

• Allelic Composition: Vhl^tm1Lss/Vhl^tm1Lss; Tg(Pdx1-cre)89.1Dam/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

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

Vhl^tm1Lss/Vhl^tm1Lss Tg(Pdx1-cre)89.1Dam/0 mice develop microcystic adenomas in the pancreas

mortality/aging

postnatal lethality, incomplete penetrance ( J:148174 )

• numbers of mutant offspring identified at weaning (3.7%) are significantly lower than expected Mendelian numbers (25%)

• expected numbers of double mutant offspring are present embryonically and at birth, but many die by P5

neoplasm

increased pancreas adenoma incidence ( J:148174 )

• at 6-7 months of age, pancreases are indistinguishable from controls; at 16-18 months of age, microcystic adenomas (MCA) are identified; extensive vasculature network is observed in MCA, similar to what is seen in human VHL patients

endocrine/exocrine glands

abnormal exocrine pancreas morphology ( J:148174 )

• at 16-18 months of age, significant loss of exocrine pancreas and replacement with fat deposition is observed

abnormal pancreatic islet morphology ( J:148174 )

• at 16-18 months of age, some islets appear small and abnormally shaped without many exocrine acinar cells surrounding them

pancreas cyst ( J:148174 )

• at 6-7 months of age, pancreases are indistinguishable from controls; at 16-18 months of age, cysts are identified

increased pancreas adenoma incidence ( J:148174 )

• at 6-7 months of age, pancreases are indistinguishable from controls; at 16-18 months of age, microcystic adenomas (MCA) are identified; extensive vasculature network is observed in MCA, similar to what is seen in human VHL patients

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:148174 )

• at 16-18 months of age, significant loss of exocrine pancreas and replacement with fat deposition is observed

growth/size/body

pancreas cyst ( J:148174 )

• at 6-7 months of age, pancreases are indistinguishable from controls; at 16-18 months of age, cysts are identified

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:148174