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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tpp1tm1Plob
targeted mutation 1, Peter Lobel and David Sleat
MGI:3521972
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Tpp1tm1Plob/Tpp1tm1Plob B6.129S1-Tpp1tm1Plob MGI:3804722
hm2
Tpp1tm1Plob/Tpp1tm1Plob involves: 129S1/Sv MGI:3522158
hm3
Tpp1tm1Plob/Tpp1tm1Plob involves: 129S1/Sv * C57BL/6 MGI:3522157
ht4
Tpp1tm1Plob/Tpp1tm1.1Plob B6.129S1-Tpp1tm1Plob/Tpp1tm1.1Plob MGI:3804729


Genotype
MGI:3804722
hm1
Allelic
Composition
Tpp1tm1Plob/Tpp1tm1Plob
Genetic
Background
B6.129S1-Tpp1tm1Plob
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1tm1Plob mutation (0 available); any Tpp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: survival to an average age of 132 days (135-138), shorter than on a 129S1/Sv background

behavior/neurological
• a constant tremor is noticeable around 7 weeks of age which becomes more pronounced with age
• mutants eventually develop ataxia and abnormal gait
• at around 4 months of age, mutants show a shortened stride with splaying of the rear limbs

nervous system
• accumulation of a small proteolipid, subunit C of mitochondrial ATP synthase (SCMAS) in the brain is detected by 60 days of age and increases as mice age
• levels of SCMAS are elevated in the Purkinje cell layer of the cerebellar cortex at 4 months of age

cellular
• significant accumulation of punctuate cytoplasmic autofluorescent lysosomal storage material in the cerebral cortex at 128 days of age
• significant accumulation of punctuate cytoplasmic autofluorescent lysosomal storage material in the cerebral cortex at 128 days of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 2 DOID:0110726 OMIM:204500
J:136105




Genotype
MGI:3522158
hm2
Allelic
Composition
Tpp1tm1Plob/Tpp1tm1Plob
Genetic
Background
involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1tm1Plob mutation (0 available); any Tpp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: survival to an average of 164 days, with most dying between 136-185 days of age; survival is slightly longer than on a mixed 129S1/Sv and C57BL/6 background (J:94884)




Genotype
MGI:3522157
hm3
Allelic
Composition
Tpp1tm1Plob/Tpp1tm1Plob
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1tm1Plob mutation (0 available); any Tpp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: survival to an average of 138 days, with most dying between 108-169 days of age; survival is slightly shorter than on a 129S1/Sv background

behavior/neurological
• slight, constant tremor develops at 7 weeks of age; increasing severity with age
• observed with advanced age
• in a rotarod test, activity of mutants was normal until 14 weeks of age, then became severely reduced in ability compared to controls
• in a rocking rotating rod test, impaired performance was noted after 10 weeks of age
• observed with advanced age; hunched gait with outward pointing feet and splayed hind limbs and side to side shaking while walking
• decreased rearing activity
• apparent fatal startle seizures were observed that were induced by stimuli such as a loud noise

cellular
• accumulation of ceroid lipofuscin within the lysosomal compartment was observed from 48 days of age in neocortex samples; accumulation of additional material was seen with age; also observed in most other brain regions
• accumulation of curvilinear storage bodies was apparent in cortex at 35 days of age; was also observed in other tissues, but without overt cytopathology

nervous system
• apparent fatal startle seizures were observed that were induced by stimuli such as a loud noise
• neuronal degeneration of particular brain areas was observed; these areas include auditory pathways but not visual pathways
• mild atrophy of forebrain structures including the hippocampus and overlying neocortex; loss of neurons
• variable in extent and with age; most prominent in lobules III and IV of the cerebellum
• disorganized myelin sheaths with dilations suggesting degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 2 DOID:0110726 OMIM:204500
J:94884




Genotype
MGI:3804729
ht4
Allelic
Composition
Tpp1tm1Plob/Tpp1tm1.1Plob
Genetic
Background
B6.129S1-Tpp1tm1Plob/Tpp1tm1.1Plob
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1tm1.1Plob mutation (0 available); any Tpp1 mutation (27 available)
Tpp1tm1Plob mutation (0 available); any Tpp1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median and maximal survival of 269 and 438 days

behavior/neurological
• onset of tremor occurs after 1 year of age
• become increasingly ataxic
• starting around 9 months of age, mutants develop an abnormal gait with a shortened stride and splaying of the rear limbs
• eventually develop a hunched appearance and a side-to-side sway as they walk

nervous system
• levels of the small proteolipid, subunit C of mitochondrial ATP synthase (SCMAS ), are slightly elevated in the Purkinje cell layer of the cerebellar cortex at 4 months of age

cellular
• later onset of neuronal ceroid lipofuscinosis disease and slower progression than in homozygous Tpp1tm1Plob mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 2 DOID:0110726 OMIM:204500
J:136105





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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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory