Mammalian Genome

, 8:927 | Cite as

Mapping of new recessive cataract gene (itIr2) in the mouse

  • Chang-Woo Song
  • Masaaki Okumoto
  • Nobuko Mori
  • Jin-Suk Kim
  • San-Seop Han
  • Kozaburo Esaki
Original Contribution


A new strain of mice with cataracts was developed in BALB/cHeA and STS/A recombinant inbred strain, CXS4 (D). In this study the mapping of spontaneous autosomal recessive cataract mutation is described. This mutation was characterized by ruptures of the lens nucleus, vitreous chamber through the posterior capsule, and the vacuolization of the lens. For the linkage analysis, we produced two kinds of backcross progenies, (BALB/cHeA x D)F1 and (STS/A x D)F1 females crossed to D male mice. The gene (Ir2, lens rupture2) was mapped to the central part of Chromosome(Chr) 14, 0.7 ± 0.7cM from the micosatellite rnarker D14Mit28.


Cataract Recombinant Inbred Backcross Progeny Recombinant Inbred Strain Lens Cataract 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Balkan W, Klintworth GK, Bock CB, Linney E (1992) Transgenic mice expressing a constitutively active retinoic acid receptor in the lens exhibit ocular defects. Dev Biol 151, 622–625PubMedCrossRefGoogle Scholar
  2. Beasley AB (1963) Inheritance and development of a lens abnormality in the mouse. J Morphol 11, 1–11CrossRefGoogle Scholar
  3. Brahma SK, Sanyal S (1984) Immunohistochemical studies of lens crystallins in the dysgenetic lens (dyl) mutant mice. Exp Eye Res 38, 305- 311PubMedCrossRefGoogle Scholar
  4. Dietrich W, Katz H, Lincoln SE, Shin H-S, Friedman J, Dracopoli NC, Lander ES (1992) A genetic map of the mouse suitable for typing interspecific crosses. Genetics 131, 423–447PubMedGoogle Scholar
  5. Dietrich WF, Miller J, Steen R, Merchant MA, Damron-Boles D, Husain Z, Dredge R, Daly MJ, Ingalls KA, O’Connor TJ, Evans CA, DeAngelis MM, Levinson DM, Kruglyak L, Goodman N, Copeland NG, Jenkins NA, Hawkins TL, Stein L, Page DC, Lander ES (1996) A comprehensive genetic map of the mouse genome. Nature 380, 149–152PubMedCrossRefGoogle Scholar
  6. Doolittle DP, Davisson MT, Guidi JN, Green MC (1996) Catalog of mutant genes and polymorphic loci. In: Genetic Variants and Strains of the Laboratory Mouse, 3rd ed. Lyon MF, Rastan S, Brown SDM, eds (London/New York: Oxford University Press) pp. 17–854Google Scholar
  7. Everett CA, Glenister PH, Taylor DM, Lyon MF, Kratochvilov-Loester J, Favor J (1994) Mapping of six dominant cataract genes in the mouse. Genomics 20, 429–34PubMedCrossRefGoogle Scholar
  8. Fraser FC, Herer ML (1949) The inheritance and expression of the “lens rupture” gene in the house mouse. J Hered 41, 3–7Google Scholar
  9. Hilgers J, Arends J (1985) A series of recombinant inbred strains between the BALB/cHeA and STS/A mouse strains. Curr Top Microbiol Immunol 122, 31–37PubMedGoogle Scholar
  10. Hosokawa M, Ashida Y, Tsuboyama T, Wen-Hsi C, Takeda T (1988) Cataract in senescence accelerated mouse (SAM). Exp Eye Res 47, 629–640PubMedCrossRefGoogle Scholar
  11. Hsieh CL, Kumar NM, Gilula NB, Francke U (1991) Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. Somatic Cell Mol Genet 17, 191–200CrossRefGoogle Scholar
  12. Iida F, Matsushima Y, Hiai H, Uga S, Honda Y (1997) Rupture of lens cataract: a novel hereditary recessive cataract model in the mice. Exp Eye Res 64, 107–113PubMedCrossRefGoogle Scholar
  13. Iwata S, Kinoshita J (1971) Mechanism of development of hereditary cataract in mice. Investig Ophthalmol Vis Sci 10, 504–512Google Scholar
  14. Kistler J, Christie D, Bullivant S (1988) Homologies between gap junction proteins in lens, heart and liver. Nature 331, 721–723PubMedCrossRefGoogle Scholar
  15. Kratochvilova J, Favor J (1988) Phenotypic characterization and genetic analysis of twenty dominant cataract mutations detected in offspring of irradiated male mice. Genet Res 52, 125–134PubMedCrossRefGoogle Scholar
  16. Lyon MF, Kirby MC (1994) Mouse Chromosome Atlas. Mouse Genome 92, 19–61Google Scholar
  17. Matsushima Y, Kamoto T, Iida F, Abujiang, Honda Y, Hiai H (1996) Mapping of rupture of lens cataract (rlc) on mouse chromosome 14. Genomics 36, 553–554PubMedCrossRefGoogle Scholar
  18. Mignon C, Fromaget C, Matttei M-G, Gros D, Yamasaki H, Mesnil M (1996) Assignment of connexin 26(GJB2) and 46(GJA3) genes to human chromosome 13q11 → q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet Cell Genet 72, 185–186PubMedCrossRefGoogle Scholar
  19. Mori N, Okumoto M, van Der Valk MA (1995) Genetic dissection of susceptibility to radiation-induced apoptosis of thymocytes and mapping of Rapopl, a novel susceptibility gene. Genomics 25, 609–614PubMedCrossRefGoogle Scholar
  20. Rouge PE, Hawes NL, Heckenlively JR, Langley SH, Roderick TH (1992) Autosomal dominant mouse cataract (Lop-10). Investig Ophthalmol Vis Sci 33, 3202–3208Google Scholar
  21. Song CW, Okumoto M, Mori N, Yamate J, Sakuma S, Kim JS, Han SS, Hilgers J, Esaki K (1997) A new hereditary cataract mouse with lens rupture. Lab Anim in pressGoogle Scholar
  22. West JD, Fisher G (1985) Inherited cataracts in inbred mice. Genet Res 46 45–56PubMedGoogle Scholar
  23. West JD, Fisher G (1986) Further experience of the mouse dominant cataract mutation test from an experiment with ethylnitrosourea Mutat Res 164, 127–136PubMedGoogle Scholar
  24. Zhou E, Favor J, Silvers W, Stambolian D (1995) Exclusion of three candidate genes, Grpr, Cxn33, and Pdhal, for the X-linked cataract gene on the distal region of the mouse Chromosome X. Mamm Genome 6 357–359PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1997

Authors and Affiliations

  • Chang-Woo Song
    • 1
    • 4
  • Masaaki Okumoto
    • 2
  • Nobuko Mori
    • 2
  • Jin-Suk Kim
    • 3
  • San-Seop Han
    • 4
  • Kozaburo Esaki
    • 1
  1. 1.Laboratory of Experimental AnimalsCollege of AgricultureOsakaJapan
  2. 2.Division of Bionics, Department of Applied Bioscience, Research Institute of Advanced Science and TechnologyOsaka Prefecture UniversityOsakaJapan
  3. 3.Department of Veterinary Medicine and Animal Resources Research CenterKon Kuk UniversitySeoulRepublic of Korea
  4. 4.Toxicological Research CenterKorea Research Institute of Chemical TechnologyYusung-gu, Taejeon-siRepublic of Korea

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