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Phenotypes Associated with This Genotype
Genotype
MGI:5512911
Allelic
Composition
Tpp1m1J/Tpp1m1J
Genetic
Background
STOCK Tpp1m1J/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpp1m1J mutation (1 available); any Tpp1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• evident by 3.5 to 4 months of age, tremor initially appears intermittent and more pronounced when walking then becomes constant as overall symptoms worsen with age
• evident by 3.5 to 4 months of age

mortality/aging
• all homozygotes die by 6 months of age

nervous system
• by 17 weeks of age there are eosinophilic and luxol fast blue positive cytoplasmic inclusions in motor neurons in spinal cord and other large neurons in the brain
• by 19 weeks of age there are also myelin figures in the white matter and inclusions in muscle and bone marrow macrophages

muscle
• histology at 6 weeks of age reveals a few inflammed and degenerating muscle fibers, and at 19 weeks of age there are inclusions in muscle, small muscle fibers and rowing of nuclei in muscle fibers

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 2 DOID:0110726 OMIM:204500
J:201119


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
01/12/2022
MGI 6.17
The Jackson Laboratory