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.
Michael A. Hauser, Duke University Medical Center
Genetic Background | Generation |
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Allele Type |
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Transgenic (Inserted expressed sequence, Humanized sequence) |
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.
Expressed Gene | MYOT, myotilin, human |
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Site of Expression |
Allele Name | transgene insertion 12, Michael Hauser |
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Allele Type | Transgenic (Inserted expressed sequence, Humanized sequence) |
Allele Synonym(s) | Tg(HSA-MYOT)12Mah; TgWT |
Gene Symbol and Name | Tg(ACTA1-MYOT)12Mah, transgene insertion 12, Michael Hauser |
Gene Synonym(s) | |
Promoter | ACTA1, actin, alpha 1, skeletal muscle, human |
Expressed Gene | MYOT, myotilin, human |
Strain of Origin | (C57BL/6 x SJL)F2 |
Chromosome | UN |
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. |
Mutations Made By | Sean Garvey, Duke University Medical Center |
When maintaining a live colony, these mice are bred as homozygotes.
When using the TgT57I mouse strain in a publication, please cite the originating article(s) and include JAX stock #006612 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Hemizygous or Non carrier for Tg(ACTA1-MYOT)12Mah |
Frozen Mouse Embryo | B6.Cg-Tg(ACTA1-MYOT)12Mah/J | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Tg(ACTA1-MYOT)12Mah/J | $2595.00 |
Frozen Mouse Embryo | B6.Cg-Tg(ACTA1-MYOT)12Mah/J | $3373.50 |
Frozen Mouse Embryo | B6.Cg-Tg(ACTA1-MYOT)12Mah/J | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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