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Transgene Detail
Symbol: Tg(ACTA1-MYOT*T57I)71Mah
Name: transgene insertion 71, Michael Hauser
MGI ID: MGI:3640478
Synonyms: Tg(ACTA1-MYOT)71Mah, Tg(HSA-MYOT)71Mah, TgT57I
Transgene: Tg(ACTA1-MYOT*T57I)71Mah  Location: unknown  
Strain of Origin:  (C57BL/6 x SJL)F2
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(ACTA1-MYOT*T57I)71Mah expresses 1 gene
Mutation detailsThe point mutation responsible for limb-girdle muscular dystrophy type 1A (LGMD1A) in a North American family - substitution of threonine for isoleucine at amino acid position 57 (T57I) of the protein - was introduced into the human myotilin cDNA. This mutant 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 mutant human myotilin is 2.6-fold that of the endogenous mouse protein. (J:110377)
Inheritance:    Dominant
View phenotypes for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Original:  J:110377 Garvey SM, et al., Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Hum Mol Genet. 2006;15(15):2348-2362
All:  1 reference(s)

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MGI 6.01
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