Literature summary for 3.4.14.9 extracted from

Nemtsova, Y.; Wiseman, J.; El-Banna, M.; Lobel, P.; Sleat, D.
Inducible transgenic expression of tripeptidyl peptidase 1 in a mouse model of late-infantile neuronal ceroid lipofuscinosis (2018), PLoS ONE, 13, e0192286 .

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Protein Variants

Protein Variants	Comment	Organism
additional information	knockout mice containing the LSL-TPP1 transgene in the ROSA26 locus are referred to as TgLSL-TPP1, 5'-integration of TgLSL-TPP1 into the ROSA26 locus. A cloned PCR-amplified region of ROSA26 corresponds to nucleotides 113076032 to 113077227 of Mus musculus strain C57BL/6J chromosome 6 (GRCm38.p4). Method development for creation of mice expressing cre/ERT2 transgenes, transgenic mouse with inducible TPP1 to benchmark treatment approaches, evaluation of treatment at different stages of disease. A construct containing a loxP-flanked stop cassette inserted between the chicken-actin promoter and a sequence encoding murine TPP1 (TgLSL-TPP1) is integrated into the ROSA26 locus in mice by homologous recombination. Tested in both transfected CHO cells and in transgenic mice, the TgLSL-TPP1 does not express TPP1 until cre-mediated removal of the LSL cassette, which results in supraphysiological levels of TPP1 activity. Two of the four cre/ERT2 driver transgenes have significant cre activity in the absence of tamoxifen, while cre-mediated recombination cannot be induced by tamoxifen by two others. The germline-recombined mouse transgenic that constitutively overexpresses TPP1 allow long-term evaluation of overexposure to the enzyme and in cell culture, the inducible transgene may be a useful tool in biomarker discovery projects	Mus musculus
R446H	the Tpp1f allele produces normal levels of properly spliced transcript, albeit with the Arg446His mutation	Mus musculus

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Mus musculus	5764	-

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	O89023	-	-
Mus musculus C57BL/6	O89023	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
Ala-Ala-Phe-7-amido-4-methylcoumarin + H2O	-	Mus musculus	Ala-Ala-Phe + 7-amino-4-methylcoumarin	-	?
Ala-Ala-Phe-7-amido-4-methylcoumarin + H2O	-	Mus musculus C57BL/6	Ala-Ala-Phe + 7-amino-4-methylcoumarin	-	?

Synonyms

Synonyms	Comment	Organism
tripeptidyl peptidase 1	-	Mus musculus

General Information

General Information	Comment	Organism
malfunction	late-infantile neuronal ceroid lipofuscinosis is a fatal neurodegenerative disease of children caused by mutations resulting in loss of activity of the lysosomal protease, tripeptidyl peptidase 1 (TPP1), gene therapy studies on the LINCL mouse using Tpp1-targeted mouse models for LINCL that accurately recapitulate the human disease with locomotor deficits and a reduced lifespan. Tpp1-/- mice show signs of disease progression but death typically occurs suddenly (possibly from disease-related seizures) when feeding and grooming behaviors remained normal and before they become moribund. No gender-specific effects in life-span or other phenotypes of the LINCL mouse model are observed	Mus musculus

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Release 2023.1 (January 2023)