Phenotypes Associated with This Genotype

Genotype
MGI:4840094

• Allelic Composition: Nf1^tm1Par/Nf1⁺; Pten^tm1Hwu/Pten⁺; Trp53^tm1Tyj/Trp53⁺; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S4/SvJae * 129X1/SvJ * FVB/N

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

mortality/aging

premature death ( J:134611 )

• most die as early as 10 weeks of age, and usually within a week of showing signs of morbidity

behavior/neurological

increased startle reflex ( J:134611 )

• exaggerated startle response

ataxia ( J:134611 )

• ataxic gait

unidirectional circling ( J:134611 )

seizures ( J:134611 )

• generalized motor seizures

nervous system

seizures ( J:134611 )

• generalized motor seizures

increased brain tumor incidence ( J:134611 )

increased astrocytoma incidence ( J:134611 )

• gliomas from asymptomatic mutants are primarily classified as grade 3 astocytomas

• 5-fold higher growth rate of astrocytomas compared with tumors from transgenic mice heterozygous for Nf1^tm1Par and Trp53^tm1Tyj and hemizygous for Tg(GFAP-cre)25Mes

neoplasm

increased brain tumor incidence ( J:134611 )

increased astrocytoma incidence ( J:134611 )

• gliomas from asymptomatic mutants are primarily classified as grade 3 astocytomas

• 5-fold higher growth rate of astrocytomas compared with tumors from transgenic mice heterozygous for Nf1^tm1Par and Trp53^tm1Tyj and hemizygous for Tg(GFAP-cre)25Mes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:134611