| First Author | Mülhardt C | Year | 1994 |
| Journal | Neuron | Volume | 13 |
| Issue | 4 | Pages | 1003-15 |
| PubMed ID | 7946325 | Mgi Jnum | J:21071 |
| Mgi Id | MGI:69120 | Doi | 10.1016/0896-6273(94)90265-8 |
| Citation | Mulhardt C, et al. (1994) The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element. Neuron 13(4):1003-15 |
| abstractText | Mice homozygous for the spastic mutation (spa) suffer from a complex motor disorder resulting from reduced CNS levels of the adult glycine receptor isoform GlyRA, which is composed of ligand-binding alpha 1 and structural beta polypeptides. The beta subunit-encoding gene (Glyrb) was mapped near the spa locus on mouse chromosome 3. In spa/spa mice, aberrant splicing of the beta subunit pre-mRNA strikingly diminishes the CNS contents of full-length transcripts, whereas truncated beta subunit mRNAs accumulate. This is a result of exon skipping, which causes translational frameshifts and premature stop codons. Intron 5 of the spa Glyrb gene contains an L1 transposable element that apparently is causal for the aberrant splicing of beta subunit transcripts. |
