Phenotypes Associated with This Genotype

Genotype
MGI:3804729

• Allelic Composition: Tpp1^tm1Plob/Tpp1^tm1.1Plob
• Genetic Background: B6.129S1-Tpp1^tm1Plob/Tpp1^tm1.1Plob

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

mortality/aging

premature death ( J:136105 )

• median and maximal survival of 269 and 438 days

behavior/neurological

tremors ( J:136105 )

• onset of tremor occurs after 1 year of age

ataxia ( J:136105 )

• become increasingly ataxic

abnormal gait ( J:136105 )

• 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

short stride length ( J:136105 )

nervous system

abnormal Purkinje cell morphology ( J:136105 )

• 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

abnormal lysosome physiology ( J:136105 )

• later onset of neuronal ceroid lipofuscinosis disease and slower progression than in homozygous Tpp1^tm1Plob mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 2		DOID:0110726	OMIM:204500	J:136105