Mtm1^tm1Itl

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Species

Mus musculus

Symbol

Mtm1^tm1Itl

Category

allele

Allele of gene

Mtm1

Transgenic Constructs

None

Synonyms

• p.R69C

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations