Phenotypes Associated with This Genotype

Genotype
MGI:4838320

• Allelic Composition: Nf1^tm1Par/Nf1^tm1Fcr; Tg(GFAP-cre)#Gtm/0
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

hematopoietic system

abnormal microglial cell morphology ( J:165209 )

• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas

immune system

abnormal microglial cell morphology ( J:165209 )

• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas

nervous system

abnormal microglial cell morphology ( J:165209 )

• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas

increased glioma incidence ( J:165209 )

• mice develop optic gliomas in the optic chiasm/nerves

• optic gliomas appear as gross thickenings and enlargements of the pre-chiasmic nerve at 9 months of age

abnormal astrocyte morphology ( J:165209 )

• irregularly shaped and thickened astrocytes are seen in the pre-chiasmatic optic nerves

retina ganglion cell degeneration ( J:165209 )

• retinal ganglion cell loss in the middle and peripheral region

abnormal optic nerve morphology ( J:165209 )

• optic gliomas form in the pre-chiasmatic optic nerve/optic chiasm, with increased vascularization to the area, abnormally shaped and thickened astrocytes, increase in microglia, and axonal and myelin degeneration

• mice exhibit abnormal optic nerve axon organization

abnormal optic chiasm morphology ( J:165209 )

• the optic chiasm/nerves at 9 months of age appear as gross fusiform enlargements that result in optic gliomas

• increase in vascularization in the pre-chiasmatic optic nerve and optic chiasm (and in the optic glioma)

axon degeneration ( J:165209 )

• axonal and myelin degeneration are seen in the optic nerve

abnormal astrocyte physiology ( J:165209 )

• increase in neoplastic astrocyte proliferation in the optic glioma

abnormal myelination ( J:165209 )

• disruption of the myelin is seen in the optic nerve, including degeneration and hypermyelination

hypermyelination ( J:165209 )

• hypermyelination is seen in the optic nerve

neoplasm

increased glioma incidence ( J:165209 )

• mice develop optic gliomas in the optic chiasm/nerves

• optic gliomas appear as gross thickenings and enlargements of the pre-chiasmic nerve at 9 months of age

vision/eye

retina ganglion cell degeneration ( J:165209 )

• retinal ganglion cell loss in the middle and peripheral region

abnormal optic nerve morphology ( J:165209 )

• optic gliomas form in the pre-chiasmatic optic nerve/optic chiasm, with increased vascularization to the area, abnormally shaped and thickened astrocytes, increase in microglia, and axonal and myelin degeneration

• mice exhibit abnormal optic nerve axon organization

abnormal optic chiasm morphology ( J:165209 )

• the optic chiasm/nerves at 9 months of age appear as gross fusiform enlargements that result in optic gliomas

• increase in vascularization in the pre-chiasmatic optic nerve and optic chiasm (and in the optic glioma)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurofibromatosis 1		DOID:0111253	OMIM:162200	J:165209