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| Nomenclature |
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Symbol:
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Mtmr2tm1.1Abol
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Name:
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myotubularin related protein 2;
targeted mutation 1, Alessandra Bolino
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MGI ID: |
MGI:3513454 |
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Synonyms: |
Mtmr2-, Mtmr2-nullneo |
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Gene:
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Mtmr2
Location:
Chr9:13748410-13806481 bp, + strand
Genetic Position: Chr9,
3.44 cM, cytoband A1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:94373
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Parent Cell Line:
| TBV2 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: The 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mtmr2 Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
