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| Nomenclature |
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Symbol:
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Mtmr2tm1Ueli
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Name:
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myotubularin related protein 2;
targeted mutation 1, Ueli Suter
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MGI ID: |
MGI:3612427 |
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Synonyms: |
Mtmr2 m |
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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:104120
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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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: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
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All: |
2 reference(s)
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Analysis Tools
