Phenotypes Associated with This Genotype

Genotype
MGI:4849441

• Allelic Composition: Kras^tm4Tyj/Kras⁺; Pten^tm1Hwu/Pten⁺; Tg(Gfap-cre)77.6Mvs/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6NHsd

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

mortality/aging

premature death ( J:154673 )

• survival is on average 22 weeks

neoplasm

increased classified tumor incidence ( J:154673 )

• mutants develop multiple visible subcutaneous tumors with 100% penetrance, starting from 4 months of age

• majority of tumors are located on the back and sides

increased neurofibroma incidence ( J:154673 )

• each mutant has more than one lesion with features of human neurofibroma and malignant peripheral nerve sheath tumor

increased neurofibrosarcoma incidence ( J:154673 )

• progressive development of malignant peripheral nerve sheath tumors (MPNST) from neurofibroma, with 100% of mutants showing MPNST when followed for 7 months

• Pten loss of heterozygosity in mutants correlates with MPNST transformation from neurofibromas

nervous system

increased neurofibroma incidence ( J:154673 )

• each mutant has more than one lesion with features of human neurofibroma and malignant peripheral nerve sheath tumor

increased neurofibrosarcoma incidence ( J:154673 )

• progressive development of malignant peripheral nerve sheath tumors (MPNST) from neurofibroma, with 100% of mutants showing MPNST when followed for 7 months

• Pten loss of heterozygosity in mutants correlates with MPNST transformation from neurofibromas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant peripheral nerve sheath tumor		DOID:5940		J:154673
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:154673