Summary | Transgene origin | Transgene description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Tg(ACTA1-MYOT)12Mah
Name:	transgene insertion 12, Michael Hauser
MGI ID:	MGI:3640477
Synonyms:	Tg(HSA-MYOT)12Mah, TgWT
Transgene:	Tg(ACTA1-MYOT)12Mah  Location: unknown
Alliance:	Tg(ACTA1-MYOT)12Mah page

Strain of Origin:

(C57BL/6 x SJL)F2

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Tg(ACTA1-MYOT)12Mah expresses 1 gene Transgene expresses: Organism Expressed Gene Homolog in Mouse Note human MYOT (9499) Myot  (MGI:1889800)   Mutation details: 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. (J:110377) Inheritance:    Dominant

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
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:	2 reference(s)