About   Help   FAQ
Tpp1tm1.1Plob
Targeted Allele Detail
Summary
Symbol: Tpp1tm1.1Plob
Name: tripeptidyl peptidase I; targeted mutation 1.1, Peter Lobel and David Sleat
MGI ID: MGI:3795216
Synonyms: neodelArg446His, Tpp1f
Gene: Tpp1  Location: Chr7:105394018-105401442 bp, - strand  Genetic Position: Chr7, 55.97 cM
Alliance: Tpp1tm1.1Plob page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:136105
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Nucleotide substitutions
 
Mutation detailsThe neo cassette was removed by germ line, cre-mediated recombination leaving the nucleotide substitution that results in the amino acid substitution of a histidine for an arganine at position 446 (Arg446His) intact. This allele is a hypomorph. (J:136105)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:136105 Sleat DE, et al., Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. Mol Genet Metab. 2008 Jun;94(2):222-33
All:  1 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
02/20/2024
MGI 6.23
The Jackson Laboratory