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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(GFAP-cre)#Gtm
transgene insertion #, David H Gutmann
MGI:3057344
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Smarcb1tm2Sho/Smarcb1tm2Sho
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53+
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA MGI:5771804
cn2
Smarcb1tm2Sho/Smarcb1tm2Sho
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53tm1Brn
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA MGI:5771805
cn3
Smarcb1tm2Sho/Smarcb1+
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53tm1Brn
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA MGI:5771803
cn4
Smarcb1tm2Sho/Smarcb1+
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53+
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA MGI:5771802
cn5
Itgavtm2Hyn/Itgavtm2.1Hyn
Tg(GFAP-cre)#Gtm/0
involves: 129P2/OlaHsd * C57BL/6 * CBA MGI:5306155
cn6
Smarcb1tm2Sho/Smarcb1tm2Sho
Tg(GFAP-cre)#Gtm/0
involves: 129S1/Sv * C57BL/6 * CBA MGI:5771801
cn7
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0
involves: 129S4/SvJae * C57BL/6 * CBA MGI:5292549
cn8
Gt(ROSA)26Sortm2(tTA,CMV*1-KIAA1549/BRAF,-EGFP)Gtm/Gt(ROSA)26Sor+
Tg(GFAP-cre)#Gtm/0
involves: 129S6/SvEvTac * C57BL/6 * CBA MGI:5543816
cn9
Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA MGI:4838320
cn10
Nf1tm1Fcr/Nf1+
Tg(GFAP-cre)#Gtm/0
involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA MGI:5292552
cn11
Nf1tm1Fcr/Nf1+
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0
involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA MGI:5292550
cn12
Gt(ROSA)26Sortm1(tTA,CMV*1-Rheb,-EGFP)Gtm/Gt(ROSA)26Sor+
Tg(GFAP-cre)#Gtm/0
involves: C57BL/6 * CBA MGI:5292547


Genotype
MGI:5771804
cn1
Allelic
Composition
Smarcb1tm2Sho/Smarcb1tm2Sho
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation (0 available); any Smarcb1 mutation (10 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
Trp53tm1Brn mutation (3 available); any Trp53 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• lesions in the white matter of the corpus callosum and cingulum

neoplasm
N
• no neoplastic growth is seen in the brain




Genotype
MGI:5771805
cn2
Allelic
Composition
Smarcb1tm2Sho/Smarcb1tm2Sho
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53tm1Brn
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation (0 available); any Smarcb1 mutation (10 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
Trp53tm1Brn mutation (3 available); any Trp53 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• severe scratching behavior
• motor coordination problems become evident from around 3 weeks of age
• abnormal posture of the hind limbs
• mice exhibit tumbling repeatedly during attempted locomotion; mice frequently fall over and repeatedly lift and replace the same paw in various positions during each stride
• severe ataxia
• mice exhibit intermittent episodes of tail extension and dystonic posturing of the body, frequently in response to handling
• many mice appear lethargic with hind limb paralysis
• mice exhibit a non-uniform gait, with uneven stride length and width, dragging of the hindpaws and an inability to keep the hindquarters upr
• uneven stride length
• many mice appear lethargic with hind limb paralysis
• mice exhibit clear seizures or intermittent electrographic seizures associated either with forelimb clonus, evolving into body jerking, and wild running or arrest of activity during the ictal EEG discharges

cellular
• altered granule neuron migration, with some granule neurons failing to migrate out of the external germinal layer, others remaining trapped in the molecular layer
• altered cerebellar granule neuron migration is already seen at 3 weeks of age

growth/size/body
• body weight is reduced by about 40%

mortality/aging
• mice require water gel for survival

muscle
• mice exhibit intermittent episodes of tail extension and dystonic posturing of the body, frequently in response to handling

neoplasm
• mice develop brain tumors starting at around 1 month of age
• mice that die suddenly exhibit presence of high-grade, aggressive tumors that infiltrate and obliterate the surrounding cerebellar folia
• tumors appear to arise from the cerebellum
• tumors show hallmarks of atypical teratoid/rhabdoid tumor of the central nervous system

nervous system
• mice exhibit clear seizures or intermittent electrographic seizures associated either with forelimb clonus, evolving into body jerking, and wild running or arrest of activity during the ictal EEG discharges
• altered granule neuron migration, with some granule neurons failing to migrate out of the external germinal layer, others remaining trapped in the molecular layer
• altered cerebellar granule neuron migration is already seen at 3 weeks of age
• mice develop brain tumors starting at around 1 month of age
• mice that die suddenly exhibit presence of high-grade, aggressive tumors that infiltrate and obliterate the surrounding cerebellar folia
• tumors appear to arise from the cerebellum
• tumors show hallmarks of atypical teratoid/rhabdoid tumor of the central nervous system
• defects in white matter with complete loss of tissue in regions of white matter over time
• white matter fiber tracks are reduced
• loss of white matter is already seen at 3 weeks of age
• defects in the corpus callosum
• lesions in the corpus callosum are already seen at 3 weeks of age
• defects in the hippocampus
• reduced cerebral cortex is already seen at 3 weeks of age
• defects in the cytoarchitecture of the cerebellum
• progressive loss of cells and neuronal projections in the cerebellum
• the boundary between the internal granule layer and the molecular layer remains diffuse
• loss of oligodendrocytes with age
• high level of gliosis in the fiber tracks and in the molecular layer and in the remnants of the external germinal layer




Genotype
MGI:5771803
cn3
Allelic
Composition
Smarcb1tm2Sho/Smarcb1+
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53tm1Brn
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation (0 available); any Smarcb1 mutation (10 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
Trp53tm1Brn mutation (3 available); any Trp53 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• excessive scratching behavior resulting in dermatitis around the neck, earlobes, and the flank region




Genotype
MGI:5771802
cn4
Allelic
Composition
Smarcb1tm2Sho/Smarcb1+
Tg(GFAP-cre)#Gtm/0
Trp53tm1Brn/Trp53+
Genetic
Background
involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation (0 available); any Smarcb1 mutation (10 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
Trp53tm1Brn mutation (3 available); any Trp53 mutation (139 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• excessive scratching behavior resulting in dermatitis around the neck, earlobes, and the flank region




Genotype
MGI:5306155
cn5
Allelic
Composition
Itgavtm2Hyn/Itgavtm2.1Hyn
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Itgavtm2.1Hyn mutation (0 available); any Itgav mutation (24 available)
Itgavtm2Hyn mutation (0 available); any Itgav mutation (24 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:5771801
cn6
Allelic
Composition
Smarcb1tm2Sho/Smarcb1tm2Sho
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarcb1tm2Sho mutation (0 available); any Smarcb1 mutation (10 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• variable, mild defect in granule neuron migration
• brain lesions that are prominent in the white matter of the corpus callosum with vacuolization, spongy changes, cystic-like breakdown and destruction of tissue
• extent of damage is variable and progresses with age
• posterior portion of the corpus callosum is more affected than the anterior portion
• disorganization of the Purkinje cell layer
• loss of axons
• loss of myelin

cellular
• variable, mild defect in granule neuron migration

neoplasm
N
• mice do not develop brain tumors up to more than 1 year of age




Genotype
MGI:5292549
cn7
Allelic
Composition
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(GFAP-cre)#Gtm mutation (0 available)
Tsc1tm1Djk mutation (1 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:5543816
cn8
Allelic
Composition
Gt(ROSA)26Sortm2(tTA,CMV*1-KIAA1549/BRAF,-EGFP)Gtm/Gt(ROSA)26Sor+
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm2(tTA,CMV*1-KIAA1549/BRAF,-EGFP)Gtm mutation (0 available); any Gt(ROSA)26Sor mutation (313 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal GFAP+ and S100B+ astrocytes cell numbers




Genotype
MGI:4838320
cn9
Allelic
Composition
Nf1tm1Par/Nf1tm1Fcr
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (85 available)
Nf1tm1Par mutation (4 available); any Nf1 mutation (85 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
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
• 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
• 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

neoplasm
• 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 ID Ref(s)
Neurofibromatosis, Type I; NF1 162200 J:165209




Genotype
MGI:5292552
cn10
Allelic
Composition
Nf1tm1Fcr/Nf1+
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (85 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• cell proliferation in the optic nerve is increased compared to in wild-type mice
• optic gliomas
• kinking of the prechiasmatic optic nerves

neoplasm
• 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




Genotype
MGI:5292550
cn11
Allelic
Composition
Nf1tm1Fcr/Nf1+
Tsc1tm1Djk/Tsc1tm1Djk
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Fcr mutation (3 available); any Nf1 mutation (85 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
Tsc1tm1Djk mutation (1 available); any Tsc1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die before 3 months of age

neoplasm
N
• mice do not develop gliomas




Genotype
MGI:5292547
cn12
Allelic
Composition
Gt(ROSA)26Sortm1(tTA,CMV*1-Rheb,-EGFP)Gtm/Gt(ROSA)26Sor+
Tg(GFAP-cre)#Gtm/0
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(tTA,CMV*1-Rheb,-EGFP)Gtm mutation (0 available); any Gt(ROSA)26Sor mutation (313 available)
Tg(GFAP-cre)#Gtm mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal brain weight
• mice do not develop seizures
• astrocytes exhibit increased mTor signaling-dependent proliferation compared to in control cells

growth/size/body
N
• mice exhibit normal body weight





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory