Phenotypes associated with this allele

• Allele Symbol: Tpp1^tm1.1Plob
• Allele Name: targeted mutation 1.1, Peter Lobel and David Sleat
• Allele ID: MGI:3795216
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tpp1^tm1.1Plob/Tpp1^tm1.1Plob	B6.129S1-Tpp1^tm1.1Plob	MGI:3804727
ht2	Tpp1^tm1Plob/Tpp1^tm1.1Plob	B6.129S1-Tpp1^tm1Plob/Tpp1^tm1.1Plob	MGI:3804729

Genotype
MGI:3804727

hm1

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

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

mortality/aging

premature death ( J:136105 )

• mutants die somewhat earlier than controls, with median and maximal survival of 603 and 734 days compared to median survival of 822 days for wild-type

nervous system

abnormal brain morphology ( J:136105 )

• do not observe any significant accumulation of the small proteolipid, subunit C of mitochondrial ATP synthase (SCMAS), in the brain at 1 year of age, however by 22 months of age, levels are slightly increased

cellular

abnormal lysosome physiology ( J:136105 )

• similar progression of neuronal ceroid lipofuscinosis disease as homozygous Tpp1^tm1Plob mice, however onset of disease occurs later

• disease phenotype at the end of life in this mutant is not as severe as in homozygous Tpp1^tm1Plob mice or compound Tpp1^tm1Plob/ Tpp1^tm1.1Plob mice

Genotype
MGI:3804729

ht2

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

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