| First Author | Bulfield G | Year | 1982 |
| Journal | Mouse News Lett | Volume | 66 |
| Pages | 57 | Mgi Jnum | J:13903 |
| Mgi Id | MGI:62081 | Citation | Bulfield G, et al. (1982) Change pke, pyruvate kinase expression to X-linked muscular dystrophy, mdx. Mouse News Lett 66:57 |
| abstractText | Full text of MNL contribution: Research News: 1. We reported (MNL 64:61) a mutant which spontaneously arose in C57BL/10 had 3-5 fold higher blood pyruvate kinasc (PK) levels and was an X-linked recessive; we designated it pke (pyruvate kinase expression). This mutant conferred increased heat stability, altered Km for phosphoenolpyruvate, and altered electrophoretic mobility on the blood but not the liver PK. During further characterisation of the mutant's PK (fructosediphosphate interaction and mild tryptic digest) we became aware that it resembled muscle/kidney PK (see Peters et a1. Biochem. Genet. 19:757). On fractionating whole blood all this extra PK activity was found to reside in the plasma (which contains almost no PK in wild type animals); electrophoretic analysis of the plasma for creatine phosphokinase isoenzymes revealed large amounts of the muscle type isoenzyme,and histology of the muscle indicates muscular dystrophy. This mutant is being subjected to a detailed histological analysis at various ages to assess whether it resembles either of the two main human X-linked muscular dystrophies - Becker and Duchenne; we will also map its position on the X chromosome. In the meantime we propose its name be altered from pke to mdx (X-linked muscular dystrophy). (Bulfield; Siller and Wight; PRC Anatomy Dept). |
