A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

References

• Donaldson P, Eckert R, Green C, Kistler, J. Gap junction channels: new roles in disease. Histol HistopathoL 1997; 12:219–231.
   Google Scholar
• TenBroek EM, Johnson R, Louis CF. Cell-to-cell commu-nication in a differentiating ovine lens culture system. Invest Ophthalmol Vis Sci 1994;35:215–228.
   PubMed Web of Science ®Google Scholar
• Kistler J, Kirkland B, Bullivant, S. Identification of a 70,000-D protein in lens membrane junctional domains. J Cell Biol. 1985;101:28–35.
   PubMed Web of Science ®Google Scholar
• White TW, Bruzzone R, Goodenough DA, Paul DL. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell. 1992;129:711–720.
   Google Scholar
• Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA. The human connexin gene family of gap junction pro-teins: distinct chromosomal locations but similar struc-tures. Genomics. 1991;10:250–256.
   Google Scholar
• Church RL, Wang J, Steele, E. The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosomal mapping. Curr Eye Res. 1994;14:215–221.
   Web of Science ®Google Scholar
• Yang DI, Louis CF. Molecular cloning of sheep connexin 49 and its identity with MP70. Curr Eye Res. 1996; 15:307–314.
   PubMed Web of Science ®Google Scholar
• Kerscher S, Church RL, Boyd Y, Lyon ME Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Ciybal (crystallin 13A3/A1), Ciybb2 (crystallin 13B2), Gja8 (MP70), and Lim2 (MP19). Genomics. 1995;29:445–450.
   PubMed Web of Science ®Google Scholar
• Geyer DD, Church RL, Steele EC, et al. Regional mapping of the human MP70 (Cx50) gene by fluorescence in situ hybridization to 1q21.1. Mo/ Vis [serial online]. 1997;3:13. Available at: http://www.emory.edu/molvis/v3/geyer.
   Google Scholar
• Favor J. A comparison of the dominant cataract and reces-sive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983;110: 367–382.
   PubMedGoogle Scholar
• Favor J. Characterization of dominant cataract mutations in mice: penetrance, fertility and homozygous viability of mutations recovered after 250 mg/kg ethylnitrosourea paternal treatment. Genet Res Camb. 1984;44:183–197.
   PubMedGoogle Scholar
• Steele EC Jr, Lyon MF, Glenister PH, Guillot PV, Church RL. Identification of a mutation in the connexin 50 (Cx50) gene of the No2 cataractous mouse mutant. In: Werner R, ed. Gap Junctions. Amsterdam, Netherlands: ISO Press; 1998:289–293.
   Google Scholar
• Strauss WF. Preparation of genomic DNA from mamma-lian tissue. In: Current Protocols in Molecular Biology. New York, NY: Greene Publishing Associates and Wiley-Interscience; 1987:2.2.1–2.2.3.
   Google Scholar
• Searle AG, Spearman RI. "Matted," a new hair-mutant in the house mouse: genetics and morphology. J Embiyol Exp MorphoL 1957;5:93–102.
   Google Scholar
• Cloudman AM, Bunker LE. The varitint-waddler mouse. J Hered. 1945;36:258–263.
   Google Scholar
• Gun JA, Catterall JF, Kourides IA. Cloning of cDNA encoding the pre-beta subunit of mouse thyrotropin. Proc Natl Acad Sci USA. 1983;80:2122–2126.
   PubMedGoogle Scholar
• Deussing J, Roth W, Rommerskirch W, Wiederanders B, von Kigura K. The genes of the lysosomal cysteine pro-teases cathepsin B, H, L and S map to different mouse chromosomes. Mammal Genome. 1997;8:241–245.
   Google Scholar
• Hart MC, Korshanova YO, Cooper JA. Mapping of the mouse actin capping protein a subunit genes and pseudo-genes. Genomics. 1997;39:264–270.
   Google Scholar
• Miller JC, Dietrich WF, Steen RG, et al. SSLP/Microsatel-lite genetic linkage map of the mouse. In: Genetic Variants and Strains of the Laboratory Mouse. Oxford, UK: Oxford University Press; 1996:1671–1755.
   Google Scholar
• Popp RA, Bailiff EG, Skow LC, Johnson FM, Lewis SE. Analysis of a mouse alpha-globin gene mutation induced by ethylnitrosourea. Genetics. 1983;105:157–167.
   Google Scholar
• Sandulache R, Pretsch W, Chatterjee B, Gimbel W, Graw J, Favor, J. Molecular analysis of four lactate dehydrogenase-A mutants in the mouse. Mamm Genome. 1994;5:777–780.
   Google Scholar
• Marker PC, Seung K, Bland AE, Russell LB, Kingsley DM. Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics. 1997;145: 435–443.
   Google Scholar
• Rubin JB, Verselis VK, Bennett MVL, Bargiello TA. A domain substitution procedure and its use to analyze volt-age dependence of homotypic gap junctions formed by connexins 26 and 32. Proc Natl Acad Sci USA. 1992;89: 3820–3824.
   PubMedGoogle Scholar
• Rubin JB, Verselis VK, Bennett MVL, Bargiello TA. Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32. Biophys J. 1992;62:183–195.
   PubMedGoogle Scholar
• Bergoffen J, Scherer SS, Wang S, et al. Connexin muta-tions in X-linked Charcot-Marie-Tooth disease. Science. 1993;262:2039–2042.
   PubMed Web of Science ®Google Scholar
• Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995;332(20): 1323–1329.
   Google Scholar
• Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997;6:2173–2177.
   PubMed Web of Science ®Google Scholar
• Gong X, Li E, Klier G, et al. Disruption of alpha3 con-nexin gene leads to proteolysis and cataractogenesis in mice. Cell. 1997;91:833–843.
   PubMed Web of Science ®Google Scholar
• Nettleship E. Seven new pedigrees of hereditary cataract. Trans Ophthalmol Soc UK 1909;29:188–211.
   Google Scholar
• Pergament E, Rowley JD, Kadotani T, Sato H, Berlow S. Chromosome mapping of the Duffy blood group locus. Chic Med Sch Q. 1968;27:216–221.
   PubMedGoogle Scholar
• Renwick JH, Lawler SD. Probable linkage between a con-genital cataract locus and the Duffy blood group locus. Ann Hum Genet. 1963;27:67–84.
   PubMed Web of Science ®Google Scholar
• Verrusio AC, Fraser, FC. Identity of mutant genes "Shriv-elled" and cataracta congenita subcapsularis in the mouse. Genet Res. 1966;8: 377–378.
   Google Scholar
• Lyon MF, Jarvis SE, Sayers I, Holmes RS. Lens Opacity: a new gene for congenital cataract on chromosome 10 of the mouse. Genet Res. 1981;38:337–341.
   PubMed Web of Science ®Google Scholar
• Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet. 1996;12:212–215.
   PubMed Web of Science ®Google Scholar
• Gorin MB, Yancey BS, Cline J, Revel JP, Horwitz J. The major intrinsic protein (MIP) of the bovine lens fiber membrane: characterization and structure based on cDNA cloning. Cell. 1984;39:49–59.
   Google Scholar
• Reizer J, Reizer A, Saier, MH. The Mip family of integral membrane channel proteins: sequence comparisons, evo-lutionary relationships, reconstructed pathway of evolu-tion and proposed functional differentiation of the two repeated halves of the proteins. Crit Rev Biochem Molec Biol. 1993;28:235–257.
   PubMed Web of Science ®Google Scholar
• Kerscher S, Glenister PH, Favor J, Lyon MF. Two new cata-ract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. Genomics. 1996;36:17–21.
   PubMedGoogle Scholar
• Steele EC Jr, Kerscher S, Lyon MF, et al. Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. Mol Vis [serial online]. 1997;3:5. Available at: http://www.emory.edu/molvis/v3/steele.
   Google Scholar
• Henneman H, Kozjek G, Dahl E, Nicholson B, Willecke K. Molecular cloning of mouse connexin 26 and -32: sim-ilar genomic organization but distinct promoter sequences of two gap junction genes. Eur J Cell Biol. 1992;58: 81–89.
   Google Scholar
• Dahl E, Manthey D, Chen Y, et al. Molecular cloning and functional expression of mouse connexin-30, a gap junc-tion gene highly expressed in adult brain and skin. J Biol Chem. 1996;271:17903–17910.
   PubMed Web of Science ®Google Scholar
• Heneeman H, Dahl E, White J, et al. Two gap junction genes, connexin 31.1 and -30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. J Biol Chem. 1992;267: 17225–17233.
   Google Scholar
• Henneman H, Schwarz HJ, Willecke K. Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: molecular cloning of mouse 31 and -45 cDNAs. Eur J Cell Biol. 1992;57: 51–58.
   Google Scholar
• Nishi M, Kumar NM, Gilula NB. Developmental regula-tion of gap junction gene expression during mouse embry-onic development. Dev Biol. 1991;146:117–180.
   Google Scholar
• Willecke K, Heynkes R, Dahl E, et al. Mouse connexin37: cloning and functional expression of a gap junction gene highly expressed in lung. J Cell Biol. 1991;114:1049–1057.
   PubMed Web of Science ®Google Scholar
• Henneman H, Suchyna T, Lichtenberg-Frate H, et al. Molecular cloning and functional expression of mouse connexin 40, a second gap junction gene preferentially expressed in lung. J Cell BioL 1992;117: 1299–1310.
   Google Scholar