| First Author | Skynner MJ | Year | 1994 |
| Journal | Genet Res | Volume | 63 |
| Issue | 2 | Pages | 157 (Abstr) |
| Mgi Jnum | J:18591 | Mgi Id | MGI:66854 |
| Citation | Skynner MJ, et al. (1994) Genetic mapping and pathology of the myopathy in the kyphoscoliotic (ky) mouse. Genet Res 63(2):157 (Abstr) |
| abstractText | Full text of Abstract. Abstracts of papers. Genetic mapping and pathology of the myopathy in the kyphoscoliotic (ky) mouse. M.J. SKYNNER1, U. GANGADHARAN3, A. ENTWHISTLE2, S.D.M. BROWN3 AND G.R. COULTON1. 1Dept. of Biochemistry, Charing Cross and Westminster Medical School, London W6 8RF; 2Ludwig Institute for Cancer Research, London Wl 8PT, UK; 3Dept. of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London W2 1 PG, UK. The ky mutation, kyphoscoliosis, exhibits a degenerative muscle disease where regeneration of tonic muscles is arrested so they become weaker and smaller. The earliest abnormality seen in ky is muscle fibre necrosis followed by regeneration and the most striking differences between ky and the mdx, muscular dystrophy mutant, lie in neuromuscular junction (NMJ) morphology with extreme motor axon sprouting in ky as well as grossly abnormal distribution of acetylcholine receptor and acetylcholin- esterase in affected muscles. As is the case in normal muscles, 43 kD and s-laminin were associated with AChR in ky muscles. Using an interspecific backcross segregating the ky mutation we have mapped the ky locus to a small region of chromosome 9. ky is non-recombinant with the microsatellite D9Mit24 and lies in a conserved linkage group that encompasses human chromosome 3. s-laminin which maps to this region is recombinant with ky and, in addition, having identified the map position of ky, we have been able to eliminate a number of other NMJ proteins. The ky mutation would appear to lie in a gene coding for an as yet unidentified NMJ-associated protein. |
