Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Mtm1tm1Itl
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:	Mtm1tm1Itl page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	27 strains or lines available

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)