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Tpp1tm1Plob
Targeted Allele Detail
Nomenclature
Symbol: Tpp1tm1Plob
Name: tripeptidyl peptidase I; targeted mutation 1, Peter Lobel and David Sleat
MGI ID: MGI:3521972
Synonyms: CLN2-, neoinsArg446His, Tpp1-
Gene: Tpp1  Location: Chr7:105394018-105401442 bp, - strand  Genetic Position: Chr7, 55.97 cM
Mutation
origin
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+
Mutation
description
Allele Type:    Targeted (Conditional ready, 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
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:  27 strains or lines available
References
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:  11 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory