Phenotypes Associated with This Genotype

Genotype
MGI:4840095

• Allelic Composition: Nf1^tm1Par/Nf1⁺; Trp53^tm1Elee/Trp53⁺; Tg(GFAP-cre)25Mes/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * FVB/N

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

mortality/aging

premature death ( J:134611 )

• mutants survive up to 8 weeks beyond initial appearance of symptoms

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 )

• mutants develop astrocytomas

• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

neoplasm

increased brain tumor incidence ( J:134611 )

increased astrocytoma incidence ( J:134611 )

• mutants develop astrocytomas

• neurospheres from mutant astrocytomas exhibit loss of heterozygosity at both Nf1 and Trp53 loci

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