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Updated: Aug 2, 2026
Mouse Eye Enucleation for Remote High-throughput Phenotyping
Published on: November 19, 2011
Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice
E J Cargill1, T R Happold, G Bertani
1Department of Animal Science, University of Nebraska, Lincoln, Nebr 68583-0908, USA.
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.
