| First Author | Cargill EJ | Year | 2001 |
| Journal | Hum Hered | Volume | 52 |
| Issue | 2 | Pages | 77-82 |
| PubMed ID | 11474208 | Mgi Jnum | J:71585 |
| Mgi Id | MGI:2150458 | Doi | 10.1159/000053358 |
| Citation | Cargill EJ, et al. (2001) Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice. Hum Hered 52(2):77-82 |
| abstractText | OBJECTIVE: To localize the chromosomal position of a novel cataract mutation (juvenile recessive cataract; jrc) in mice. METHODS: A mapping population was developed by crossing cataract males (albino MH) to wild-type females (black C57BL/6J). F1 females were backcrossed to albino MH males with cataracts. RESULTS: The results were consistent with a model of a single autosomal recessive gene [153 cataract, 169 wild-type; chi2 = 0.8, 1 degree of freedom (d.f.), p > 0.35]. Linkage with the albino (tyrosinase; Tyr) locus was evident (chi2 = 61.5, 1 d.f., p < 0.0001), implicating chromosome 7 as the location of jrc. Recombination percentages (+/- SE) between jrc and D7Mit340 (1.2 cM location), D7Mit227 (16.0 cM) and D7Mit270 (18.0 cM) were 17.1 +/- 2.1, 3.7 +/- 1.1 and 6.2 +/- 1.3%, respectively. Multi-point mapping determined that the most likely order of these loci is D7Mit340 - jrc - D7Mit227 - D7Mit270 - Tyr. Although animals with the mutant phenotype appeared to have little or no sense of sight, their growth was not different (p >0.20) from that of normal mice. CONCLUSION: The jrc mutation model may be useful in the study of the genetics of cataracts in other animal species, including humans. Copyright 2001 S. Karger AG, Basel |
