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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppt1tm1Hof
targeted mutation 1, Sandra L Hoffmann
MGI:2176390
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ppt1tm1Hof/Ppt1tm1Hof involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:5296508
hm2
Ppt1tm1Hof/Ppt1tm1Hof involves: 129S6/SvEvTac * C57BL/6J MGI:2176410
cx3
Gfaptm1Pkny/Gfaptm1Pkny
Ppt1tm1Hof/Ppt1tm1Hof
Vimtm1Cba/Vimtm1Cba
involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6 MGI:5296507


Genotype
MGI:5296508
hm1
Allelic
Composition
Ppt1tm1Hof/Ppt1tm1Hof
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppt1tm1Hof mutation (2 available); any Ppt1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants die by 35 weeks of age, with a median survival of 33 weeks

nervous system
• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes
• mutants exhibit a 2.6-fold increase in autofluorescent accumulation in the brain compared to wild-type mice
• decrease in brain weight by 13.4% is seen by 6 months of age
• atrophy of the primary visual cortex
• at 6 months of age, 21.6% decrease in cortical thickness
• by 5 months of age, brain atrophy is apparent
• reactive astrocytosis
• mutants exhibit progressive neurodegeneration, with degenerating neurons within the corpus callosum, hippocampus, and thalamus at 5 months of age

homeostasis/metabolism
• mutants exhibit elevated cytokine and chemokine levels at 3 months of age
• fewer cytokines and chemokines are elevated in single mutant mice than in triple Ppt1, Gfap and Vim homozygotes

immune system
• mutants exhibit elevated cytokine and chemokine levels at 3 months of age
• fewer cytokines and chemokines are elevated in single mutant mice than in triple Ppt1, Gfap and Vim homozygotes
• mutants exhibit immune cell infiltration in the brain, with an increase in CD45+ leukocytes, CD3+ T-cells, and CD68+ large monocytes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 1 DOID:0110721 OMIM:256730
J:177265




Genotype
MGI:2176410
hm2
Allelic
Composition
Ppt1tm1Hof/Ppt1tm1Hof
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppt1tm1Hof mutation (2 available); any Ppt1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neuronal loss is Ppt1tm1Hof/Ppt1tm1Hof mice

mortality/aging
• death by 10 months of age

nervous system
• evident beginning at 3 to 4 months of age
• early onset in the retina
• autofluorescent deposits, granular osmiophilic deposits, found in cells throughout brain
• storage at 5 months of age found in cerebral cortex, cerebellar Purkinje and granular layers, hippocampus, thalamus and hypothalamus, dentate nucleus, pons, and some areas of the medulla
• early onset in the retina
• at P112 and P240, but not at P45
• reduced number at P112 and P240
• cerebral cortex neurodegeneration
• at P240, but not P45 and P112

vision/eye
• at P112 and P240, but not at P45
• reduced number at P112 and P240
• at P240, but not P45 and P112
• accumulation of granular osmiophilic storage material (e.g. saposin D, electron-dense storage material) in subretinal microglia and macrophages
• slightly at P45 and P112, strongly at P240 as measured by mean intensity
• significantly at P112 and P240 as measured by integrated density values

behavior/neurological
• bite wounds in colony evident
• beginning at 4 to 5 months of age
• lowering of pelvis, splayed hind limbs, hunched posture, side-to-side wobbling, evident beginning at 4 - 5 months of age and progressing to hind limb paralysis
• end point of abnormal gait
• evident beginning at 3 to 4 months of age

muscle
• evident beginning at 3 to 4 months of age

skeleton
• thickened

craniofacial
• thickened

hematopoietic system
• early onset in the retina

immune system
• early onset in the retina

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 3 DOID:0110731 OMIM:204200
J:72931




Genotype
MGI:5296507
cx3
Allelic
Composition
Gfaptm1Pkny/Gfaptm1Pkny
Ppt1tm1Hof/Ppt1tm1Hof
Vimtm1Cba/Vimtm1Cba
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfaptm1Pkny mutation (0 available); any Gfap mutation (22 available)
Ppt1tm1Hof mutation (2 available); any Ppt1 mutation (5 available)
Vimtm1Cba mutation (2 available); any Vim mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• 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
• triple mutants exhibit earlier and more rapid progression of neurodegenerative disorder resembling infantile neuronal ceroid lipofuscinosis than single Ppt1 homozygotes
• mutants exhibit a 3.3-fold increase in autofluorescent accumulation in the brain compared to wild-type mice
• decrease in brain weight by 26.2% is seen by 6 months of age
• atrophy of the primary visual cortex
• at 6 months of age, 28.9% decrease in cortical thickness
• by 5 months of age, brain atrophy is apparent
• 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

immune system
• 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.
• 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

homeostasis/metabolism
• 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.





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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory