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Targeted Allele Detail
Symbol: Mtm1tm1.1Jman
Name: X-linked myotubular myopathy gene 1; targeted mutation 1.1, Jean-Louis Mandel
MGI ID: MGI:2450997
Synonyms: MTM1delta4
Gene: Mtm1  Location: ChrX:71210767-71315413 bp, + strand  Genetic Position: ChrX, 36.55 cM
Clinical evaluation of muscle weakness in Mtm1tm1.1Jman/Y mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:81791
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129T1/Sv-Dnd1Ter
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsThis 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 7 anatomical structures
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 Mtm1 Mutation:  18 strains or lines available
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
All:  20 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.16
The Jackson Laboratory