Mouse Genome Informatics
cn
    Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0

involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
hematopoietic system
• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas

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

nervous system
• at 9 months of age, mutants have significantly more microglia than controls; microglia are in the optic gliomas
• irregularly shaped and thickened astrocytes are seen in the pre-chiasmatic optic nerves
• retinal ganglion cell loss in the middle and peripheral region
• 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
• 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)
• axonal and myelin degeneration are seen in the optic nerve
• increase in neoplastic astrocyte proliferation in the optic glioma
• disruption of the myelin is seen in the optic nerve, including degeneration and hypermyelination
• hypermyelination is seen in the optic nerve

tumorigenesis
• 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
• retinal ganglion cell loss in the middle and peripheral region
• 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
• 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
OMIM IDRef(s)
Neurofibromatosis, Type I; NF1 162200 J:165209