B6.Cg-Tg(ACTA1-MYOT)12Mah/J

Stock number: 006612
Product name: TgT57I
Research areas: Mouse/Human Gene Homologs

Description

These transgenic mice express the wildtype human myotilin gene (MYOT) under the direction of the human skeletal muscle alpha 1 actin (ACTA1) promoter in skeletal muscle.

Detailed description

Mice homozygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These transgenic mice express the wildtype human myotilin gene, MYOT, under the direction of the human skeletal muscle alpha 1 actin, ACTA1, promoter. RT-PCR reveals transgene expression is specific to skeletal muscle. Although, no toxicity due to overexpression of the transgene product is observed in mutant mice up to age 2 years, histological analysis reveals small esosinophilic aggregates beneath the sarcolemma in quadriceps and triceps muscles in older mutant mice. Very slight sarcolemmal damage is observed in quadriceps muscle tissue from transgenic mice. This strain serves as the control for Stock No. 006615, B6.Cg-Tg(ACTA1-MYOT)71Mah/J. This mutant mouse strain may be useful in studies of the pathogenesis of muscular dystrophy.

Allele

Symbol: Tg(ACTA1-MYOT)12Mah
Name: transgene insertion 12, Michael Hauser
MGI accession ID: MGI:3640477
Generation method: Transgenic
Attributes: Inserted expressed sequence; Humanized sequence
Marker symbol: Tg(ACTA1-MYOT)12Mah
Marker name: transgene insertion 12, Michael Hauser
Chromosome: UN
Strain of origin: (C57BL/6 x SJL)F2
Expressed genes: MYOT,myotilin,human
Molecular note: The wild-type human myotilin cDNA, comprising 1530 bp of coding sequence, 281 bp of 5' UTR and 485 bp of 3' UTR, with sequence encoding a MYC epitope tag inserted at the beginning of the coding region, was cloned into the HAS-VP1 expression vector downstream of nucleotides -2139 through +239 of the human actin, skeletal, alpha 1 gene followed by the splice acceptor from the SV40 P1 intron; two copies of the SV40 polyadenylation signal follow the 3'UTR of the cDNA. RT-PCR analysis of several tissues detected transgene-derived mRNA only in skeletal muscle, and immunoblot analysis with antibody against MYC demonstrated appropriate expression of the transgene product in multiple striated muscles. Immunohistologic examination of muscle sections revealed uniformity of expression in fibers within a muscle group and similarity of expression in slow, type I and in fast, type II fibers. Expression of the human myotilin is 7.7-fold that of the endogenous mouse protein.