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Mtmr2tm1Ueli
Targeted Allele Detail
Summary
Symbol: Mtmr2tm1Ueli
Name: myotubularin related protein 2; targeted mutation 1, Ueli Suter
MGI ID: MGI:3612427
Synonyms: Mtmr2 m
Gene: Mtmr2  Location: Chr9:13659706-13717777 bp, + strand  Genetic Position: Chr9, 3.44 cM, cytoband A1
Alliance: Mtmr2tm1Ueli page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:104120
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA stop codon was introduced into exon 9 at the codon for amino acid 276 in exon 13, within the phosphatase domain. An IRES-lacZ-tk-neo cassette replaced the region downstream of this mutation. Immunohistochemical analysis on nerve sections of mutants suggested that a truncated protein was still expressed by peripheral nerves. (J:104120)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Mtmr2 Mutation:  38 strains or lines available
References
Original:  J:104120 Bonneick S, et al., An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2005 Dec 1;14(23):3685-95
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
03/19/2024
MGI 6.23
The Jackson Laboratory