All Phenotypes Gfap<tm1Pkny> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gfap^tm1Pkny/Gfap^tm1Pkny	involves: 129P2/OlaHsd * C57BL/6J	MGI:2677146
cx2	Gfap^tm1Pkny/Gfap^tm1Pkny Vim^tm1Cba/Vim^tm1Cba	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:3621197
cx3	Gfap^tm1Pkny/Gfap^tm1Pkny Ppt1^tm1Hof/Ppt1^tm1Hof Vim^tm1Cba/Vim^tm1Cba	involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6	MGI:5296507
cx4	Gfap^tm1Pkny/Gfap^tm1Pkny Vim^tm1Cba/Vim^tm1Cba	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3797494

Allelic Composition	Gfap^tm1Pkny/Gfap^tm1Pkny
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfap^tm1Pkny mutation (0 available); any Gfap mutation (47 available)

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

nervous system

nervous system phenotype ( J:25093 , J:125659 )

• homozygotes display normal histological CNS architecture relative to wild-type controls (J:25093)

• mutant brains contain normal numbers of astroglial cells in the hippocampus, as shown by comparative GFAP and S-100 immunostaining (J:25093)

• mutant enteric glial cells in the myenteric plexi of the ileum and colon are GFAP-negative but show normal S-100 immunostaining (J:25093)

• no impairment of the blood-brain barrier function is observed (J:25093)

• at 4 days after fine needle brain injury, homozygotes display a reactive gliosis that is qualitatively similar to that observed in wild-type brains (J:25093)

• astrocyte motility and morphology is similar to wild-type cells (J:125659)

abnormal astrocyte morphology ( J:25093 , J:125659 )

• unlike wild-type, mutant astrocytes in the hipocampus and in the white matter of the spinal cord are completely devoid of 10 nm thick intermediate filaments (J:25093)

• mutant astrocytes show reduced numbers of intermediate filaments relative to wild-type (J:125659)

cellular

cellular phenotype ( J:125659 )

N	• astrocytes are morphologically similar to wild-type • astrocyte motility in culture is similar to wild-type

behavior/neurological

behavior/neurological phenotype ( J:25093 )

N	• homozygotes are viable, fertile and exhibit normal motility, learning and memory relative to wild-type littermates

digestive/alimentary system

digestive/alimentary phenotype ( J:25093 )

N	• homozygotes exhibit normal intestinal peristalsis and fecal composition, indicating that mutant myenteric plexi are functionally intact

Allelic Composition	Gfap^tm1Pkny/Gfap^tm1Pkny Vim^tm1Cba/Vim^tm1Cba
Genetic Background	involves: 129/Sv * 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfap^tm1Pkny mutation (0 available); any Gfap mutation (47 available)
Vim^tm1Cba mutation (2 available); any Vim mutation (37 available)

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

nervous system

abnormal neuron differentiation ( J:106195 )

• in the granular layer of the dentate gyrus of 18-month old null mice, there is a 36% in formation of new neurons compared to wild-type

abnormal dentate gyrus morphology ( J:106195 )

• 18-month old null mice show higher levels of cell proliferation (34%) in the granular layer of the dentate gyrus than in wild-type

cellular

abnormal neuron differentiation ( J:106195 )

• in the granular layer of the dentate gyrus of 18-month old null mice, there is a 36% in formation of new neurons compared to wild-type

Allelic Composition	Gfap^tm1Pkny/Gfap^tm1Pkny Ppt1^tm1Hof/Ppt1^tm1Hof Vim^tm1Cba/Vim^tm1Cba
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfap^tm1Pkny mutation (0 available); any Gfap mutation (47 available)
Ppt1^tm1Hof mutation (2 available); any Ppt1 mutation (18 available)
Vim^tm1Cba mutation (2 available); any Vim mutation (37 available)

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

mortality/aging

premature death ( J:177265 )

nervous system

brain inflammation ( J:177265 )

• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes; immune cell infiltration in triple mutants is similar to that in single Ppt1 homozygotes

abnormal nervous system morphology ( J:177265 )

• triple mutants exhibit earlier and more rapid progression of neurodegenerative disorder resembling infantile neuronal ceroid lipofuscinosis than single Ppt1 homozygotes

abnormal brain morphology ( J:177265 )

• mutants exhibit a 3.3-fold increase in autofluorescent accumulation in the brain compared to wild-type mice

decreased brain weight ( J:177265 )

• decrease in brain weight by 26.2% is seen by 6 months of age

abnormal visual cortex morphology ( J:177265 )

• atrophy of the primary visual cortex

thin cerebral cortex ( J:177265 )

• at 6 months of age, 28.9% decrease in cortical thickness

brain atrophy ( J:177265 )

• by 5 months of age, brain atrophy is apparent

neurodegeneration ( J:177265 )

• mutants exhibit progressive neurodegeneration, with degenerating neurons within the cortex, thalamus, hippocampus, and cerebellum at 5 months of age

• at 5 months of age, extent of neurodegeneration is similar to that seen in single Ppt1 mutants at 7 months of age

hippocampal neuron degeneration ( J:177265 )

immune system

abnormal cytokine level ( J:177265 )

• mutants exhibit elevated cytokine levels, starting at 1 month of age, with an increase in the number of different cytokines elevated by 3 and 6 months of age

• at 1 month of age, cytokines RANTES and oncostatin-M are elevated compared to wild-type or single Ppt1 homozygotes

• at 3 months of age, IFN-gamma, TNF-alpha, oncostatin-M, lymphoactin, GM-CSF, RANTES, IP-10, MIP-1beta, MIP-2, MCP-1, MCP-3, and MCP-5 are elevated compared to wild-type mice; more cytokines and chemokines are elevated at 3 months of age than in single Ppt1 homozygotes.

brain inflammation ( J:177265 )

homeostasis/metabolism

abnormal cytokine level ( J:177265 )

• mutants exhibit elevated cytokine levels, starting at 1 month of age, with an increase in the number of different cytokines elevated by 3 and 6 months of age

• at 1 month of age, cytokines RANTES and oncostatin-M are elevated compared to wild-type or single Ppt1 homozygotes

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

nervous system

nervous system phenotype ( J:124385 )

N	• after cortical injury, mutants show comparable cell proliferation in injured region to controls

intracranial hemorrhage ( J:124385 )

• after a cortical stab wound was made, many mutants show extensive intracranial bleeding at site of injury 3 days after wounding, in contrast to controls and single mutants which do not display such extensive bleeding

decreased neuron apoptosis ( J:123278 )

• in detached retinas of mutants 3 days after surgically-induced retinal detachment (RD), few apoptotic photoreceptor cells are detected compared to detached retinas of control mice

abnormal astrocyte morphology ( J:125659 )

• cells show absence of intermediate filaments relative to wild-type

• astrocytes are smaller(35%) and exhibit fewer and shorter processes than wild-type cells

gliosis ( J:123278 )

• 3 days following surgically-induced retinal detachment (RD), mutant retinas show significantly suppressed reactive gliosis in inner nuclear layer (INL) compared to wild-type after RD

astrocytosis ( J:124385 )

• many vessels in brain and spinal cord appear dilated compared to controls

abnormal spinal cord morphology ( J:124385 )

• dorsal spinal cord shows an unusually deep indentation in mutants compared to wild-type

• scar tissue induced by incision in dorsal funiculus is less dense and contains fissures with blood, tissue fluid or debris, compared to wild-type mice 2 days or 2 weeks after surgery

abnormal astrocyte physiology ( J:125659 )

• astrocytes display reduction of cell motility relative to wild-type

• rate of diffusion of astrocytes is decreased

vision/eye

vision/eye phenotype ( J:123278 )

N	• 7 days after RD, thickness of outer nuclear layer (ONL) is unchanged, in contrast to controls after RD where a 55% reduction in ONL thickness is observed

immune system

decreased inflammatory response ( J:123278 )

• after RD, retinas of mutants exhibit suppression of monocyte infiltration compared to wild-type retinas after RD; in controls, 3 days after RD, significant numbers of monocytes are detected in outer plexiform layer (OPL), mainly attached to photoreceptor outer segments in subretinal space (SRS)

cardiovascular system

intracranial hemorrhage ( J:124385 )

increased vasodilation ( J:124385 )

• many vessels in brain and spinal cord appear dilated compared to controls

muscle

increased vasodilation ( J:124385 )

• many vessels in brain and spinal cord appear dilated compared to controls

cellular

decreased neuron apoptosis ( J:123278 )

• in detached retinas of mutants 3 days after surgically-induced retinal detachment (RD), few apoptotic photoreceptor cells are detected compared to detached retinas of control mice

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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