Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis

The mouse X-linked mutants lined and stripey are associated with lethalityof affected males in utero and a striping of the coat in carrier females.We demonstrate that the underlying mutations are nested deletions which liein the Phex-Amelx chromosomal segment conserved between man and mouse. Thelined deletion contains less than approximately 0.7 cM of genetic materialand includes the growth factor- regulated protein kinase gene, Rsk2.Stripey carries a larger deletion which removes approximately 2.0 cM ofgenetic material, including Rsk2 and the pyruvate dehydrogenase E1alphasubunit gene, Pdha1 . Since Coffin-Lowry syndrome and neonatal lacticacidosis are associated with mutations in the human homologues of Rsk2 andPdha1 respectively, lined and stripey provide models for gene deficienciesin these disorders.