Mtm1^tm1.1Jman
Targeted Allele Detail

Summary

• Symbol: Mtm1^tm1.1Jman
• Name: X-linked myotubular myopathy gene 1; targeted mutation 1.1, Jean-Louis Mandel
• MGI ID: MGI:2450997
• Synonyms: MTM1delta4
• Gene: Mtm1 Location: ChrX:70254373-70359019 bp, + strand Genetic Position: ChrX, 36.55 cM
• Alliance: Mtm1^tm1.1Jman page

Clinical evaluation of muscle weakness in Mtm1^tm1.1Jman/Y mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:81791
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129T1/Sv-Dnd1^Ter

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This allele is created by mating Mtm1^tm1Jman 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

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: 28 strains or lines available

References

• 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: 25 reference(s)