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Targeted Allele Detail
Symbol: Tpp1tm1Plob
Name: tripeptidyl peptidase I; targeted mutation 1, Peter Lobel and David Sleat
MGI ID: MGI:3521972
Synonyms: CLN2-, neoinsArg446His
Gene: Tpp1  Location: Chr7:105744811-105752235 bp, - strand  Genetic Position: Chr7, 55.97 cM
Germline Transmission:  Earliest citation of germline transmission: J:94884
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Nucleotide substitutions
Mutation detailsA floxed neo cassette was inserted into intron 11 and a missense mutation causing Arg446His was engineered within exon 11. Northern blot and RT-PCR analysis revealed that most of the mutant transcripts were mis-spliced and an enzyme assay for the gene product (tripeptidyl peptidase I) revealed no detectable activity. (J:94884)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Tpp1 Mutation:  22 strains or lines available
Original:  J:94884 Sleat DE, et al., A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. J Neurosci. 2004 Oct 13;24(41):9117-26
All:  9 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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