Phenotypes Associated with This Genotype

Genotype
MGI:3850478

• Allelic Composition: Nf2^tm2Gth/Nf2^tm2Gth; Tg(Vil1-cre)20Syr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

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

mortality/aging

premature death ( J:150071 )

• mice die by 10 months of age

lethality throughout fetal growth and development, incomplete penetrance ( J:150071 )

• mice occasionally die between E17 and P3

perinatal lethality, incomplete penetrance ( J:150071 )

• mice occasionally die between E17 and P3

postnatal lethality, incomplete penetrance ( J:150071 )

• mice occasionally die between E17 and P3

• fewer than expected mice survive until weaning

neoplasm

increased renal carcinoma incidence ( J:150071 )

• lesions in the renal tubule epithelia are observed as early as 15 days of age with most initiating in the corticomedullary junctions as projections of atypical epithelial cells into the proximal convoluted tubule lumen

• by 3 months of age, all mice develop lumen-filling intratubular neoplasia unlike wild-type mice

• by 6 months, tumors increase in size and number penetrating tubule basement membrane as invasive carcinomas

• renal tubule carcinoma cells exhibit a 7-fold increase in proliferation compared to in Nf2^tm2Gth homozygotes

• however, treatment with erlotinib reduces cell proliferation

growth/size/body

decreased body size ( J:150071 )

renal/urinary system

increased renal carcinoma incidence ( J:150071 )

• lesions in the renal tubule epithelia are observed as early as 15 days of age with most initiating in the corticomedullary junctions as projections of atypical epithelial cells into the proximal convoluted tubule lumen

• by 3 months of age, all mice develop lumen-filling intratubular neoplasia unlike wild-type mice

• by 6 months, tumors increase in size and number penetrating tubule basement membrane as invasive carcinomas

• renal tubule carcinoma cells exhibit a 7-fold increase in proliferation compared to in Nf2^tm2Gth homozygotes

• however, treatment with erlotinib reduces cell proliferation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal cell carcinoma		DOID:4450	OMIM:300854	J:150071