Phenotypes Associated with This Genotype

Genotype
MGI:5569737

• Allelic Composition: Tg(GFAP-SRC)2Aag/0
• Genetic Background: involves: C3H * C57BL/6

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

nervous system

increased Schwannoma incidence ( J:40335 )

• 3 mice develop tumors with features of Schwannoma

increased astrocytoma incidence ( J:40335 )

• 9 of 14 mice with dysplasia go on to develop preneoplastic lesions and 12 of these mice develop astrocytic tumors

• some tumors are multifocal with features of anaplastic astrocytoma while other tumors resemble gemistocytic astrocytoma

• almost all astroctyomas arise in the brainstem or thalamus, corresponding to regions with astrogliosis and preneoplasia

hydrocephaly ( J:40335 )

• a few mice exhibit hydrocephalus at 2 weeks of age

abnormal astrocyte morphology ( J:40335 )

• in 14 of 26 mice, astrogliosis is followed by dysplastic changes, including binucleated cells, bizarre vacuolated cells or swollen cells with rounded appearance and retracted processes resembling gemistocytes

astrocytosis ( J:40335 )

• astrogliosis is seen in all mice as early as 2 weeks of age

neoplasm

increased Schwannoma incidence ( J:40335 )

• 3 mice develop tumors with features of Schwannoma

increased astrocytoma incidence ( J:40335 )

• 9 of 14 mice with dysplasia go on to develop preneoplastic lesions and 12 of these mice develop astrocytic tumors

• some tumors are multifocal with features of anaplastic astrocytoma while other tumors resemble gemistocytic astrocytoma

• almost all astroctyomas arise in the brainstem or thalamus, corresponding to regions with astrogliosis and preneoplasia

behavior/neurological

ataxia ( J:40335 )

• mice that develop tumors show cerebellar ataxia at later stages

paralysis ( J:40335 )

• mice occasionally exhibit paraplegia due to tumors

growth/size/body

postnatal growth retardation ( J:40335 )

• some mice appear retarded in growth at 2 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant astrocytoma		DOID:3069		J:40335