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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: Chr9:13748410-13806481 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 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:  7 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory