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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:104120
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
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)
View phenotypes and curated references 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 Mtmr2 Mutation:  29 strains or lines available
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
MGI 6.21
The Jackson Laboratory