A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse.

An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the retinal outer nuclear and plexiform layers begin to reduce at 10 days of age, showing total loss at 6 weeks. The recordable electroretinograms (ERG) showed poorly at 3 to 6 weeks and were barely detected after 6 weeks of age. Retinal vessel attenuation, pigment spots, and optic atrophy appeared in the fundus at 4 weeks of age. Rd4 has not recombined with the inversion in an outcross, suggesting that the Rd4 locus is located very close to or is disrupted by one of the breakpoints of the inversion, either near the centromere or near the telomere. A human homolog would be expected to be located on human chromosomes 1p or 8q.

[1]  M. Davisson,et al.  An improved method for preparing G-banded chromosomes from mouse peripheral blood. , 1987, Cytogenetics and cell genetics.

[2]  P. Demant,et al.  A new H-2-linked mutation, rds, causing retinal degeneration in the mouse. , 1978, Tissue Antigens.

[3]  T. Shows,et al.  Autosomal control of an electrophoretic variant of glucose-6-phosphate dehydrogenase in the mouse (Mus musculus). , 1968, Genetics.

[4]  T. Roderick,et al.  Two radiation-induced chromosomal inversions in mice (Mus musculus). , 1970, Proceedings of the National Academy of Sciences of the United States of America.

[5]  F. Serres,et al.  Utilization of Mammalian Specific Locus Studies in Hazard Evaluation and Estimation of Genetic Risk , 1983 .

[6]  T. Roderick.  Using Inversions to Detect and Study Recessive Lethals and Detrimentals in Mice , 1983 .

[7]  M. Potter,et al.  ELECTROPHORETIC VARIATION AND SEX DIMORPHISM OF THE MAJOR URINARY PROTEIN COMPLEX IN INBRED MICE: A NEW GENETIC MARKER. , 1963, Journal of the National Cancer Institute.

[8]  T. Roderick,et al.  Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15. , 1995, Proceedings of the National Academy of Sciences of the United States of America.

[9]  T. Roderick,et al.  New mouse primary retinal degeneration (rd-3). , 1993, Genomics.

[10]  S. Daiger,et al.  Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. , 1991, Genomics.

[11]  R. J. Mullen,et al.  Purkinje cell degeneration, a new neurological mutation in the mouse. , 1976, Proceedings of the National Academy of Sciences of the United States of America.

[12]  R. Sidman,et al.  RETINAL DEGENERATION IN THE MOUSE: LOCATION OF THE RD LOCUS IN LINKAGE GROUP XVII. , 1965, The Journal of heredity.

[13]  T. Roderick,et al.  Nineteen paracentric chromosomal inversions in mice. , 1974, Genetics.

[14]  T. Roderick,et al.  Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis. , 1994, Investigative ophthalmology & visual science.