Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice

E. J. Cargill, T. R. Happold, G. Bertani, J. Rocha, M. F. Lou, D. Pomp, M. K. Nielsen

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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; Χ2= 0.8, 1 degree of freedom (d.f.), p>0.35]. Linkage with the albino (tyrosinase; Tyr) locus was evident (Χ2 = 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.

Original languageEnglish (US)
Pages (from-to)77-82
Number of pages6
JournalHuman Heredity
Volume52
Issue number2
DOIs
StatePublished - Aug 15 2001

Fingerprint

Chromosomes, Human, Pair 7
Cataract
Mutation
Recessive Genes
Monophenol Monooxygenase
Population

Keywords

  • Cataract
  • Mapping
  • Mice
  • Microsatellite markers
  • Recessive

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Cargill, E. J., Happold, T. R., Bertani, G., Rocha, J., Lou, M. F., Pomp, D., & Nielsen, M. K. (2001). Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice. Human Heredity, 52(2), 77-82. https://doi.org/10.1159/000053358

Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice. / Cargill, E. J.; Happold, T. R.; Bertani, G.; Rocha, J.; Lou, M. F.; Pomp, D.; Nielsen, M. K.

In: Human Heredity, Vol. 52, No. 2, 15.08.2001, p. 77-82.

Research output: Contribution to journalArticle

Cargill, EJ, Happold, TR, Bertani, G, Rocha, J, Lou, MF, Pomp, D & Nielsen, MK 2001, 'Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice', Human Heredity, vol. 52, no. 2, pp. 77-82. https://doi.org/10.1159/000053358
Cargill EJ, Happold TR, Bertani G, Rocha J, Lou MF, Pomp D et al. Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice. Human Heredity. 2001 Aug 15;52(2):77-82. https://doi.org/10.1159/000053358
Cargill, E. J. ; Happold, T. R. ; Bertani, G. ; Rocha, J. ; Lou, M. F. ; Pomp, D. ; Nielsen, M. K. / Localization of a recessive juvenile cataract mutation to proximal chromosome 7 in mice. In: Human Heredity. 2001 ; Vol. 52, No. 2. pp. 77-82.
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AU - Nielsen, M. K.

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