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Tpp1m1J
Chemically induced Allele Detail
Summary
Symbol: Tpp1m1J
Name: tripeptidyl peptidase I; mutation 1, Jackson
MGI ID: MGI:5512906
Gene: Tpp1  Location: Chr7:105394018-105401442 bp, - strand  Genetic Position: Chr7, 55.97 cM
Alliance: Tpp1m1J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA single T-to-C (A-to-G on forward strand) transition at position 105,748,881 (GRCm38) in chromosome 7 alters exon 8 splice donor site from G-GT to G-GC. (J:201119, J:222308)
Inheritance:    Recessive
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Tpp1 Mutation:  27 strains or lines available
References
Original:  J:201119 Karst SY, et al., A novel point mutation in Tpp1 provides a new model for late-infantile neuronal ceroid lipofuscinosis. MGI Direct Data Submission. 2013;
All:  2 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
01/24/2023
MGI 6.22
The Jackson Laboratory