Phenotypes Associated with This Genotype

Genotype
MGI:3522157

• Allelic Composition: Tpp1^tm1Plob/Tpp1^tm1Plob
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

premature death ( J:94884 )

• 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

tremors ( J:94884 )

• slight, constant tremor develops at 7 weeks of age; increasing severity with age

ataxia ( J:94884 )

• observed with advanced age

impaired coordination ( J:94884 )

• 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

abnormal gait ( J:94884 )

• observed with advanced age; hunched gait with outward pointing feet and splayed hind limbs and side to side shaking while walking

decreased vertical activity ( J:94884 )

• decreased rearing activity

audiogenic seizures ( J:94884 )

• apparent fatal startle seizures were observed that were induced by stimuli such as a loud noise

cellular

abnormal lysosome physiology ( J:94884 )

• 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

audiogenic seizures ( J:94884 )

• apparent fatal startle seizures were observed that were induced by stimuli such as a loud noise

neurodegeneration ( J:94884 )

• 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

Purkinje cell degeneration ( J:94884 )

• variable in extent and with age; most prominent in lobules III and IV of the cerebellum

demyelination ( J:94884 )

• 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