| First Author | Burmeister M | Year | 1994 |
| Journal | 8th International Mouse Genome Conference, London | Pages | 24 (Abstr.) |
| Mgi Jnum | J:30800 | Mgi Id | MGI:78682 |
| Citation | Burmeister M, et al. (1994) Ocular retardation (orJ) has a premature stop codon in the homeobox gene (Chx10). 8th International Mouse Genome Conference, London :24 (Abstr.) |
| abstractText | Full text of Abstract. OCULAR RETARDATION (orJ) HAS A PREMATURE STOP CODON IN THE HOMEOBOX GENE Chx10. M. Burmeister(1, 2, 3), J. Novak(5), S. Basu(3), L. Ploder(5), M. Liang(6), N. Hawes(7), B. Taylor(7), T. Roderick(7), D. Goldman(1, 4), M. Hankin(6), R.R. McInnes(5). 1 MHRI, Dept. 2 Psychiatry, 3 Hum. Genet., 4 Biol. Chem., Univ. Michigan, Ann Arbor, 5 Genetics, Hosp. for Sick Children, Toronto Ont., 6 Dept. Anat. & Neurob., Med. Coll. Ohio, Toledo, 7 Jackson Lab., Bar Harbor, ME. Ocular retardation (or/or) mice are characterized by severe microphthalmia due to abnormal development and lack of differentiation of the retina. In an intersubspecific (M. m castaneus) backcross we found 0/170 recombinants between or and Chx10 (D12Mit91-l4cM-or/Chx10- 4cM-D12Mit6). Chx10 (Neuron 8/94) is a homeobox gene, expressed in the retina and a few other CNS regions. Cloning of the Chx10 gene followed by sequencing of the 5 exons in orJ revealed a premature stop codon in the homeobox in exon 3 of Chx10, establishing that mutations in Chx10 cause ocular retardation. The results suggest a major role for Chx10 in retinal differentiation, most likely as a transcription factor. We found that the M. castaneus background significantly altered the eye size in or/or animals, and are now investigating the role of modifier genes of or. |
