Phenotypes Associated with This Genotype

Genotype
MGI:5485414

• Allelic Composition: Pten^tm2.1Ppp/Pten^tm2.1Ppp; Tg(Cnp-EGFR)10Nrat/0; Tg(Dhh-cre)1Mejr/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/N * SJL

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

mortality/aging

premature death ( J:195067 )

• rapid postnatal death, with a medial survival age of 26 days

nervous system

abnormal nervous system morphology ( J:195067 )

• mutants exhibit enlarged peripheral nerves: brachial plexi, sacral plexi, trigeminal and sciatic nerves

• 100% exhibit enlarged branchial plexi

• 50% exhibit enlarged lumbar sacral plexi

• mast cells are seen in enlarged peripheral nerves

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are graded as high-grade grade peripheral nerve sheath tumors (PNSTs) resembling human sporatic malignant grade peripheral nerve sheath tumors

abnormal trigeminal nerve morphology ( J:195067 )

• 92% exhibit enlarged trigeminal nerves

enlarged dorsal root ganglion ( J:195067 )

• mutants exhibit multiple enlarged dorsal root ganglia

abnormal sciatic nerve morphology ( J:195067 )

• 50% exhibit enlarged sciatic nerves

neoplasm

increased neurofibrosarcoma incidence ( J:195067 )

• enlarged peripheral nerves are graded as high-grade grade peripheral nerve sheath tumors (PNSTs) resembling human sporatic malignant grade peripheral nerve sheath tumors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant peripheral nerve sheath tumor		DOID:5940		J:195067