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Targeted Allele Detail
Symbol: Mtmr2tm1.1Abol
Name: myotubularin related protein 2; targeted mutation 1, Alessandra Bolino
MGI ID: MGI:3513454
Synonyms: Mtmr2-, Mtmr2-nullneo
Gene: Mtmr2  Location: Chr9:13748410-13806481 bp, + strand  Genetic Position: Chr9, 3.44 cM, cytoband A1
Germline Transmission:  Earliest citation of germline transmission: J:94373
Parent Cell Line:  TBV2 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsThe floxed region containing exon 4 was excised from Mtmr2tm1Abol by crossing with CMV-Cre transgenic mice, causing a frameshift from either ATG start site of translation (in exon 1 or exon 3). No mRNAs containing exon 4 or 3' exons could be detected by RT-PCR from tail, brain, muscle, and sciatic nerve from mutants. Western blot analysis showed that protein was absent from brain lysates from mutant animals. (J:94373)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:94373 Bolino A, et al., Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol. 2004 Nov 22;167(4):711-21
All:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory