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Phenotypes Associated with This Genotype
Genotype
MGI:3804729
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
01/17/2023
MGI 6.22
The Jackson Laboratory