Phenotypes Associated with This Genotype

Genotype
MGI:3850389

• Allelic Composition: Nf2^tm2Gth/Nf2^tm2Gth; Tg(Mpz-cre)2Brn/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

mortality/aging

decreased survivor rate ( J:63264 )

premature death ( J:63264 )

• few mice survive beyond 24 months of age

postnatal lethality, incomplete penetrance ( J:63264 )

• fewer mice than expected are obtained (no time point for lethality given)

growth/size/body

abnormal tooth development ( J:92413 )

• one mouse exhibited odontoblastic hyperplasia

decreased body size ( J:63264 )

• although not as much as in Tg(P0-Cre)1Gth conditional knock-outs of Nf2

decreased body weight ( J:63264 )

• although not as much as in Tg(P0-Cre)1Gth conditional knock-outs of Nf2

nervous system

increased neurofibrosarcoma incidence ( J:92413 )

• 1 of 27 mice develop peripheral nerve tumors

increased Schwannoma incidence ( J:63264 , J:92413 )

• 4% of mice develop schwannomas (J:63264)

abnormal Schwann cell morphology ( J:63264 , J:92413 )

• mice exhibit Schwann cell hyperplasia (J:63264)

• occasionally whorls of thin cytoplasmic processes are observed in Schwann cells (J:63264)

• 100% of mice exhibit Schwann cell hyperplasia (J:92413)

neoplasm

osseous metaplasia ( J:92413 )

• 25% of mice develop osseous metaplasia

increased lung adenocarcinoma incidence ( J:92413 )

• in one mouse

increased renal carcinoma incidence ( J:92413 )

• 25% of mice develop carcinoma in situ in the kidney

increased neurofibrosarcoma incidence ( J:92413 )

• 1 of 27 mice develop peripheral nerve tumors

increased extremity angiosarcoma incidence ( J:92413 )

• in one mouse

increased Schwannoma incidence ( J:63264 , J:92413 )

• 4% of mice develop schwannomas (J:63264)

skeleton

abnormal tooth development ( J:92413 )

• one mouse exhibited odontoblastic hyperplasia

abnormal osteoblast morphology ( J:92413 )

• 25% of mice develop osteogenic hyperplasia

renal/urinary system

increased renal carcinoma incidence ( J:92413 )

• 25% of mice develop carcinoma in situ in the kidney

abnormal renal tubule morphology ( J:92413 )

• 25% of mice develop carcinoma in situ in the kidney

vision/eye

cataract ( J:63264 , J:92413 )

• in 59% of mice, in which 50% of cases are bilateral (J:63264)

• 86% of mice (J:92413)

hearing/vestibular/ear

increased susceptibility to otitis media ( J:63264 )

immune system

increased susceptibility to otitis media ( J:63264 )

craniofacial

abnormal tooth development ( J:92413 )

• one mouse exhibited odontoblastic hyperplasia

respiratory system

increased lung adenocarcinoma incidence ( J:92413 )

• in one mouse

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
otitis media		DOID:10754		J:63264