| First Author | Kratochvilova J | Year | 1990 |
| Journal | Mouse Genome | Volume | 86 |
| Pages | 249-50 | Mgi Jnum | J:14285 |
| Mgi Id | MGI:62456 | Citation | Kratochvilova J (1990) Allelism tests of 15 autosomal cataract mutations. Mouse Genome 86:249-50 |
| abstractText | Full text of Mouse Genome contribution: Allelism tests of 15 autosomal dominant cataract mutations. To date, 15 autosomal dominant cataract mutations detected in Neuherberg have been tested inter se for allelism. All mutations have full penetrance and no effect on viability. Their phenotypes are given in Table 1. The results in Table 2 indicate three groups of allelic mutants consisting of 5, 2 and 4 mutants. All other double mutant combinations showed independent assortment of the tested alleles (Table 3). It could be concluded that the 15 mutations occurred at 7 different and unlinked loci. In order to determine allelism with already known and mapped cataract genes (MNL 83) linkage tests with morphological markers are in progress. (J. Kratochvilova) Table 1: PHENOTYPIC DESCRIPTION OF MUTANTS Provisional gene symbols: Cat -2nz; Former designation: Nzc; Phenotype: Heterozygotes: nuclear and zonular opacity; Homozygotes: central opacity; References: 1, 2. Provisional gene symbols: Cat -2no; Former designation: Nop; Phenotype: Heterozygotes: nuclear opacity; Homozygotes: nuclear opacity; References: 3, 6, 7, 8. Provisional gene symbols: Cat Ð2ro; Former designation: Rop; Phenotype: Heterozygotes: radial opacity; Homozygotes: homogeneous opacity; References: 4. Provisional gene symbols: Cat Ð2ns; Former designation: Scat, K-134; Phenotype: Heterozygotes: nuclear and anterior suture opacity; Homozygotes: vacuolated lens and microphthalmia; References: 9, 10. Provisional gene symbols: Cat Ð2t; Former designation: R-324; Phenotype: Heterozygotes: total opacity and microphthalmia; Homozygotes: total opacity and microphthalmia; References: 2, 5, 9. Provisional gene symbols: Cat Ð3vl; Former designation: Vlm; Phenotype: Heterozygotes: vacuolated lens and microphthalmia; Homozygotes: vacuolated lens and microphthalmia; References: 1, 2. Provisional gene symbols: Cat Ð3vao; Former designation: R-342; Phenotype: Heterozygotes: vacuoles, axial opacity and microphthalmia; Homozygotes: vacuoles, axial opacity and microphthalmia; References: 2, 5, 9. Provisional gene symbols: Apc-1(1); Former designation: Apyc; Phenotype: Heterozygotes: anterior polar cataract; Homozygotes: closed eyes and microphthalmia; References: 1, 2. Provisional gene symbols: Apc-1(2); Former designation: Anc; Phenotype: Heterozygotes: anterior polar cataract; Homozygotes: (lethal); References: 1, 2. Provisional gene symbols: Apc-1(3); Former designation: R-7, Pcs-2; Phenotype: Heterozygotes: anterior polar cataract; Homozygotes: (lethal); References: 2, 5, 10. Provisional gene symbols: Apc-1(4); Former designation: K-47; Phenotype: Heterozygotes: anterior polar cataract; Homozygotes: (lethal); References: unpubl. Provisional gene symbols: Coc; Former designation: -; Phenotype: Heterozygotes: coraliform opacity; Homozygotes: coraliform opacity; References: 2. Provisional gene symbols: Tcm; Former designation: X-11; Phenotype: Heterozygotes: total opacity and microphthalmia; Homozygotes: total opacity and microphthalmia; References: 2, 10. Provisional gene symbols: Hfi; Former designation: -; Phenotype: Heterozygotes: hydropic fibres; Homozygotes: total opacity; References: unpubl. Provisional gene symbols: Cle; Former designation: -; Phenotype: Heterozygotes: closed eyes and microphthalmia; Homozygotes: closed eyes and microphthalmia; References: unpubl. References: 1. Kratochvilova, J. (1981) J. Hered. 72:302. 2. Kratochvilova, J. and Favor, J. (1988) Genet. Res. 52:125. 3. Graw, J. et al. (1984) Exp. Eye Res. 30:37. 4. Kratochvilova, J. et al. (1988) Mut. Res. 198:295. 5. Graw, J. et al. (1986) Mut. Res. 159:47. 6. Doria, R. et al. (1984) Curr. Eye Res. 3:723. 7. Graw, J. et al. (1985) Exp. Eye Res. 41:577. 8. Graw, J. et al. (1986) MNL 76:56. 9. Graw, J. et al. (1987) Biol. Chem. Hoppe-Seyler 368:l046. 10. Graw, J. et al. (1988) Ophthal. Res. 20:90. Table 2. SEGREGATION RATIOS IN OUTCROSSES OF DOUBLE MUTANTS THAT INDICATE ALLELISM. Mutant alleles: A: Cat-2nz; B: Cat-2t; Number of offspring in phenotypic groups: A+: 323; B+: 310; ++: 0; Excluded linkage distance cM: 0.9. Mutant alleles: A: Cat-2nz; B: Cat-2no; Number of offspring in phenotypic groups: A+: 160; B+: 163; ++: 0; Excluded linkage distance cM: 1.8. Mutant alleles: A: Cat-2nz; B: Cat-2ro; Number of offspring in phenotypic groups: A+: 143; B+: 135; ++: 0; Excluded linkage distance cM: 2.1. Mutant alleles: A: Cat-2nz; B: Cat-2so; Number of offspring in phenotypic groups: A+: 45; B+: 37; ++: 0; Excluded linkage distance cM: 7.2. Mutant alleles: A: Cat-3vl; B: Cat-3vao; Number of offspring in phenotypic groups: A+: 318; B+: 303; ++: 0; Excluded linkage distance cM: 1.0. Mutant alleles: A: Apc-1(1); B: Apc-1(2); Number of offspring in phenotypic groups: A+/B+: 220a; ++: 0; Excluded linkage distance cM: 2.7. Mutant alleles: A: Apc-1(1); B: Apc-1(3); Number of offspring in phenotypic groups: A+/B+: 134a; ++: 0; Excluded linkage distance cM: 4.4. Mutant alleles: A: Apc-1(1); B: Apc-1(4); Number of offspring in phenotypic groups: A+/B+: 148a; ++: 0; Excluded linkage distance cM: 4.0. a A+ and B+ phenotypically not distinguishable Table 3: SEGREGATION RATIOS IN OUTCROSSES OF DOUBLE MUTANTS THAT INDICATE INDEPENDENT ALLELES Mutant alleles: A; Cat-2nz; B: Cat-3vl; Numbers of offspring in phenotypic groups: A+: 43; AB: -; B+: 70b; ++: 39; Chi-square value(d): 1.16. Mutant alleles: A; Cat-2nz; B: Hfi; Numbers of offspring in phenotypic groups: A+: 26; AB: 30; B+: 32; ++: 34; Chi-square value(d): 1.14. Mutant alleles: A; Cat-2t; B: Tcm; Numbers of offspring in phenotypic groups: A+: -; AB: 135c; B+: -; ++: 41; Chi-square value(d): 0.14. Mutant alleles: A; Cat-2ro; B: Apc-1(1); Numbers of offspring in phenotypic groups: A+: 56; AB: 47; B+: 41; ++: 54; Chi-square value(d): 2.75. Mutant alleles: A; Cat-2ro; B: Coc; Numbers of offspring in phenotypic groups: A+: 38; AB: 34; B+: 34; ++: 36; Chi-square value(d): 0.31. Mutant alleles: A; Cat-2ro; B: Cle; Numbers of offspring in phenotypic groups: A+: 12; AB: -; B+: 25b; ++: 9; Chi-square value(d): 0.73. Mutant alleles: A; Cat-3vl; B: Apc-1(1); Numbers of offspring in phenotypic groups: A+: 41; AB: 39; B+: 45; ++: 45; Chi-square value(d): 0.62. Mutant alleles: A; Cat-3vl; B: Hfi; Numbers of offspring in phenotypic groups: A+: 28a; AB: -; B+: 15; ++: 17; Chi-square value(d): 0.40. Mutant alleles: A; Cat-3vao; B: Coc; Numbers of offspring in phenotypic groups: A+: 75a; AB: -; B+: 34; ++: 30; Chi-square value(d): 1.11. Mutant alleles: A; Cat-3vao; B: Tcm; Numbers of offspring in phenotypic groups: A+: 25; AB: -; B+: 41b; ++: 20; Chi-square value(d): 0.78. Mutant alleles: A; Cat-3vao; B: Cle; Numbers of offspring in phenotypic groups: A+: 16; AB: -; B+: 27b; ++: 20; Chi-square value(d): 1.79. Mutant alleles: A; Apc-1(1); B: Coc; Numbers of offspring in phenotypic groups: A+: 9; AB: 10; B+: 16; ++: 12; Chi-square value(d): 2.45. Mutant alleles: A; Apc-1(1); B: Hfi; Numbers of offspring in phenotypic groups: A+: 15; AB: 11; B+: 13; ++: 19; Chi-square value(d): 2.41. Mutant alleles: A; Apc-1(1); B: Cle; Numbers of offspring in phenotypic groups: A+: 11; AB: -; B+: 37b; ++: 15; Chi-square value(d): 2.43. Mutant alleles: A; Coc; B: Tcm; Numbers of offspring in phenotypic groups: A+: 7; AB: -; B+: 17b; ++: 11; Chi-square value(d): 0.94. Mutant alleles: A; Coc; B: Hfi; Numbers of offspring in phenotypic groups: A+: 10; AB: -; B+: 29b; ++: 8; Chi-square value(d): 2.75. Mutant alleles: A; Coc; B: Cle; Numbers of offspring in phenotypic groups: A+: 11; AB: -; B+: 27b; ++: 18; Chi-square value(d): 1.82. Mutant alleles: A; Tcm; B: Hfi; Numbers of offspring in phenotypic groups: A+: 11a; AB: -; B+: 5; ++: 3; Chi-square value(d): 1.31. Mutant alleles: A; Tcm; B: Cle; Numbers of offspring in phenotypic groups: A+: -; AB: 40c; B+: -; ++: 15; Chi-square value(d): 0.15. Mutant alleles: A; Hfi; B: Cle; Numbers of offspring in phenotypic groups: A+: 4; AB: -; B+: 9b; ++: 8; Chi-square value(d): 1.95. a A+ and AB phenotypically not distinguishable b AB and B+ phenotypically not distinguishable c A+, AB and B+ phenotypically not distinguishable d ratio tested 1:1:1:1 |
