Phenotypes Associated with This Genotype

Genotype
MGI:5619302

• Allelic Composition: Nf2^tm2Gth/Nf2^tm2Gth; Tg(Postn-cre)1Sjc/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/NTac

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

mortality/aging

premature death ( J:216420 )

• mice show reduced life span

behavior/neurological

impaired righting response ( J:216420 )

• mice exhibit difficulty in righting themselves

impaired swimming ( J:216420 )

trunk curl ( J:216420 )

• in the trunk curl test, mice do not reach for the horizontal platform when suspended by the tail and tend to curl in toward their abdomen

head bobbing ( J:216420 )

head tilt ( J:216420 )

head tossing ( J:216420 )

circling ( J:216420 )

hearing/vestibular/ear

abnormal auditory brainstem response waveform shape ( J:216420 )

• ABR waveform analysis indicates a reduction in the first ABR wave amplitude at 6 and 8 months of age and a reduction in summating potential amplitude at 10 months of age, indicating a functional disruption in the cochlear synapse and/or cochlear nerve

increased or absent threshold for auditory brainstem response ( J:216420 )

• mice exhibit a progressive increase in ABR threshold

sensorineural hearing loss ( J:216420 )

• sensorineural hearing loss that is temporally correlated with tumorigenesis

nervous system

increased neurofibrosarcoma incidence ( J:216420 )

• most mice show only multiple large schwannomas, but 5 of 16 mice show tumor lesions consistent with malignant peripheral nerve sheath tumors

increased Schwannoma incidence ( J:216420 )

• mice develop slow-growing, low-grade schwannomas that are seen by 5 months of age

• schwannomas are seen in the dorsal root ganglion and proximal spine nerve by 8 months, and in peripheral, cranial, and spinal nerves (such as of the trigeminal and facial nerves) by 10 months

• aberrant Schwann cell growth is seen in cranial nerve VIII proximal to its entry into the inner ear, including tumors in Scarpas ganglion

• all mice exhibit vestibular schwannomas

increased Schwann cell number ( J:216420 )

• Schwann cell hyperplasia in the spinal ganglion

enlarged dorsal root ganglion ( J:216420 )

• by 5 months of age, all mice show enlargement of the dorsal root ganglion

abnormal spinal nerve morphology ( J:216420 )

• by 5 months of age, all mice show enlargement of the proximal spinal nerve roots

neoplasm

increased neurofibrosarcoma incidence ( J:216420 )

• most mice show only multiple large schwannomas, but 5 of 16 mice show tumor lesions consistent with malignant peripheral nerve sheath tumors

increased Schwannoma incidence ( J:216420 )

• mice develop slow-growing, low-grade schwannomas that are seen by 5 months of age

• schwannomas are seen in the dorsal root ganglion and proximal spine nerve by 8 months, and in peripheral, cranial, and spinal nerves (such as of the trigeminal and facial nerves) by 10 months

• aberrant Schwann cell growth is seen in cranial nerve VIII proximal to its entry into the inner ear, including tumors in Scarpas ganglion

• all mice exhibit vestibular schwannomas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
vestibular schwannomatosis		DOID:0111252	OMIM:101000	J:216420