Mtm1^tm1Itl
Targeted Allele Detail

Summary

• Symbol: Mtm1^tm1Itl
• Name: X-linked myotubular myopathy gene 1; targeted mutation 1, inGenious Targeting Laboratory
• MGI ID: MGI:5307232
• Synonyms: p.R69C
• Gene: Mtm1 Location: ChrX:70254373-70359019 bp, + strand Genetic Position: ChrX, 36.55 cM
• Alliance: Mtm1^tm1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:179741
• Parent Cell Line: iTL BA1 (ES Cell)
• Strain of Origin: (C57BL/6NTac x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 4 was replaced with a modified version in which coding nucleotide 205 was changed from C to T (c.205C>T). This results in the amino acid substitution of arginine with cysteine at position 69 (p.R69C) in the encoded protein. In vivo, however, the mutation results in aberrant splicing, with the majority of transcripts skipping exon 4 (which results in a frameshift and premature termination of translation). The mutation corresponds to one observed in some human X-linked myotubular myopathy (MTM) patients. A loxP site flanked neomycin resistance gene cassette was inserted into intron 4. (J:179741)

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mtm1 Mutation: 28 strains or lines available

References

• Original: J:179741 Pierson CR, et al., Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet. 2012 Feb 15;21(4):811-25
• All: 4 reference(s)