Mouse Genome Informatics
cn1
    Itgavtm2Hyn/Itgavtm2.1Hyn
Tg(GFAP-cre)#Gtm/0

involves: 129P2/OlaHsd * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cardiovascular system
• at E18 and P5, mice exhibit microhemorrhage in the cerebellum, mid-brain, and cerebral cortex unlike in control mice
• at E18 and P5, mice exhibit microhemorrhage in the cerebellum unlike in control mice
• at E18 and P5, mice exhibit microhemorrhage in the cerebral cortex unlike in control mice
• between P7 and P14, mice exhibit progressive reduction in cerebral microhemorrhage
• however, adult mice exhibit no hemorrhage or edema in the brain

nervous system
• at E18 and P5, mice exhibit microhemorrhage in the cerebellum, mid-brain, and cerebral cortex unlike in control mice
• at E18 and P5, mice exhibit microhemorrhage in the cerebellum unlike in control mice
• at E18 and P5, mice exhibit microhemorrhage in the cerebral cortex unlike in control mice
• between P7 and P14, mice exhibit progressive reduction in cerebral microhemorrhage
• however, adult mice exhibit no hemorrhage or edema in the brain


Mouse Genome Informatics
cn2
    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


Mouse Genome Informatics
cn3
    Nf1tm1Fcr/Nf1+
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0

involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most mice die before 3 months of age

tumorigenesis
N
• mice do not develop gliomas (J:176586)


Mouse Genome Informatics
cn4
    Nf1tm1Fcr/Nf1+
Tg(GFAP-cre)#Gtm/0

involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• cell proliferation in the optic nerve is increased compared to in wild-type mice
• kinking of the prechiasmatic optic nerves

tumorigenesis
• optic gliomas

vision/eye
• kinking of the prechiasmatic optic nerves

cellular
• cell proliferation in the optic nerve is increased compared to in wild-type mice


Mouse Genome Informatics
cn5
    Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0

involves: 129S4/SvJae * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice die by 6 to 10 weeks of age

nervous system
• by 6 to 10 weeks of age

behavior/neurological
• by 6 to 10 weeks of age


Mouse Genome Informatics
cn6
    Gt(ROSA)26Sortm2(tTA,CMV*1-KIAA1549/BRAF,-EGFP)Gtm/Gt(ROSA)26Sor+
Tg(GFAP-cre)#Gtm/0

involves: 129S6/SvEvTac * C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• mice exhibit normal GFAP+ and S100B+ astrocytes cell numbers (J:204469)


Mouse Genome Informatics
cn7
    Gt(ROSA)26Sortm1(tTA,CMV*1-Rheb,-EGFP)Gtm/Gt(ROSA)26Sor+
Tg(GFAP-cre)#Gtm/0

involves: C57BL/6 * CBA
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
N
• mice exhibit normal brain weight (J:176586)
• mice do not develop seizures (J:176586)
• astrocytes exhibit increased mTor signaling-dependent proliferation compared to in control cells

growth/size
N
• mice exhibit normal body weight (J:176586)