| First Author | Blair HJ | Year | 1998 |
| Journal | Hum Mol Genet | Volume | 7 |
| Issue | 3 | Pages | 549-55 |
| PubMed ID | 9467016 | Mgi Jnum | J:46359 |
| Mgi Id | MGI:1197775 | Doi | 10.1093/hmg/7.3.549 |
| Citation | Blair HJ, et al. (1998) Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. Hum Mol Genet 7(3):549-55 |
| abstractText | The mouse X-linked mutants lined and stripey are associated with lethality of affected males in utero and a striping of the coat in carrier females. We demonstrate that the underlying mutations are nested deletions which lie in the Phex-Amelx chromosomal segment conserved between man and mouse. The lined deletion contains less than similar to 0.7 cM of genetic material and includes the growth factor-regulated protein kinase gene, Rsk2, Stripey carries a larger deletion which removes similar to 2.0 cM of genetic material, including Rsk2 and the pyruvate dehydrogenase E1 alpha subunit gene, Pdha1, Since Coffin-Lowry syndrome and neonatal lactic acidosis are associated with mutations in the human homologues of Rsk2 and Pdha1 respectively, lined and stripey provide models for gene deficiencies in these disorders. |
