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| Nomenclature |
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Symbol:
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Mtm1tm1.1Jman
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Name:
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X-linked myotubular myopathy gene 1;
targeted mutation 1.1, Jean-Louis Mandel
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MGI ID: |
MGI:2450997 |
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Synonyms: |
MTM1delta4 |
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Gene:
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Mtm1
Location:
ChrX:71215006-71315691 bp, + strand
Genetic Position: ChrX,
36.55 cM
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Clinical evaluation of muscle weakness in Mtm1tm1.1Jman/Y mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:81791
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129T1/Sv-Dnd1Ter
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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: This allele is created by mating Mtm1tm1Jman mice to a CMV-cre deleter strain. Cre-mediated recombination results in deletion of the neo cassette and exon 4 contained within flanking loxP sites. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis. (J:81791)
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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 Mtm1 Mutation:
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18 strains or lines available |
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| References |
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Original: |
J:81791
Buj-Bello A et al.,
"The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice."
Proc Natl Acad Sci U S A 2002 Nov 12;99(23):15060-5
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All: |
7 reference(s)
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Analysis Tools
