Phenotypes associated with this allele

• Allele Symbol: Tpp1^m1J
• Allele Name: mutation 1, Jackson
• Allele ID: MGI:5512906
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tpp1^m1J/Tpp1^m1J	STOCK Tpp1^m1J/GrsrJ	MGI:5512911

Genotype
MGI:5512911

hm1

• Allelic Composition: Tpp1^m1J/Tpp1^m1J
• Genetic Background: STOCK Tpp1^m1J/GrsrJ

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

behavior/neurological

tremors ( J:201119 )

• 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

hunched posture ( J:201119 )

• evident by 3.5 to 4 months of age

mortality/aging

premature death ( J:201119 )

• all homozygotes die by 6 months of age

nervous system

neuronal cytoplasmic inclusions ( J:201119 )

• 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

myopathy ( J:201119 )

• 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