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Tpi1a-M3Neu
Chemically induced Allele Detail
Summary
Symbol: Tpi1a-M3Neu
Name: triosephosphate isomerase 1; mutation 3, Neuherberg
MGI ID: MGI:2183492
Synonyms: TPI 3502, Tpi3Neu
Gene: Tpi1  Location: Chr6:124787549-124791121 bp, - strand  Genetic Position: Chr6, 59.17 cM
Alliance: Tpi1a-M3Neu page
Mutation
origin
Strain of Origin:  (101/El x C3H/El)F1
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation is an A-to-C transversion at codon 248. This results in the alteration of the stop codon for a cysteine. The predicted protein contains 19 additional amino acids at the carboxy terminus. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle. (J:25049)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Tpi1 Mutation:  24 strains or lines available
References
Original:  J:15477 Charles DJ, et al., Linear dose-response relationship of erythrocyte enzyme-activity mutations in offspring of ethylnitrosourea-treated mice. Mutat Res. 1987 Jan;176(1):81-91
All:  5 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
12/10/2024
MGI 6.24
The Jackson Laboratory