Phenotypes Associated with This Genotype

Genotype
MGI:3804722

• Allelic Composition: Tpp1^tm1Plob/Tpp1^tm1Plob
• Genetic Background: B6.129S1-Tpp1^tm1Plob

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

mortality/aging

premature death ( J:136105 )

• Background Sensitivity: survival to an average age of 132 days (135-138), shorter than on a 129S1/Sv background

behavior/neurological

tremors ( J:136105 )

• a constant tremor is noticeable around 7 weeks of age which becomes more pronounced with age

ataxia ( J:136105 )

• mutants eventually develop ataxia and abnormal gait

abnormal gait ( J:136105 )

• at around 4 months of age, mutants show a shortened stride with splaying of the rear limbs

short stride length ( J:136105 )

nervous system

abnormal brain morphology ( J:136105 )

• 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

abnormal Purkinje cell morphology ( J:136105 )

• levels of SCMAS are elevated in the Purkinje cell layer of the cerebellar cortex at 4 months of age

cellular

abnormal lysosome morphology ( J:136105 )

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

abnormal lysosome physiology ( J:136105 )

• 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