Tg(ACTA1-TPM3*M9R)4Hrd
Transgene Detail
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| Nomenclature |
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Symbol:
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Tg(ACTA1-TPM3*M9R)4Hrd
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Name:
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transgene insertion 4, Edna Hardeman
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MGI ID: |
MGI:5444208 |
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Synonyms: |
HSA-alphaTmslow(Met9Arg), HSA-alphaTmslow(Met9Arg), HSA-aTmslow(Met9Arg), HSA-aTmslow(Met9Arg), HSA-TPM3*M9R, TPM3(Met9Arg) |
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Transgene:
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Tg(ACTA1-TPM3*M9R)4Hrd
Location:
unknown
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Transgene origin |
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Transgene description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: First, the human tropomyosin 3 gene was used to isolate a full-length alphaTmslow cDNA sequence. Next, the sequence was modified by site-directed mutagenesis to have the ATG-to-AGG base pair substitution encoding a methionine-to-arginine substitution at codon 9 (M9R); resulting in the
dominant-negative alphaTmslow(Met9Arg) mutation associated with human nemaline myopathy. The mutant cDNA sequence was placed downstream of a 2.2 kbp human alpha-skeletal actin (ACTA1) promoter sequence, and upstream of a 1022 bp cassette containing the SV40 small t antigen intron and 3' untranslated region. Lines 4, 9 and 14 were generated with high, low and moderate expression levels, respectively. (J:67596)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:67596
Corbett MA et al.,
"A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy."
Hum Mol Genet 2001 Feb 15;10(4):317-28
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All: |
2 reference(s)
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