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Targeted Allele Detail
Symbol: Tpp1tm1.1Plob
Name: tripeptidyl peptidase I; targeted mutation 1.1, Peter Lobel and David Sleat
MGI ID: MGI:3795216
Synonyms: neodelArg446His
Gene: Tpp1  Location: Chr7:105744847-105752207 bp, - strand  Genetic Position: Chr7, 55.97 cM
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+
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)
View phenotypes for all genotypes (concatenated display).
Disease models
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:  5 strains or lines available
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory