Faculty Research 1990 - 1999

Title

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

Document Type

Article

Publication Date

1997

Keywords

Electroretinography, Female, Genes-Dominant, Human, Inversion-(Genetics), Male, Mice, Mice-Inbred-C57BL, Mice-Inbred-DBA, Retinal-Degeneration: ge, pp, pa, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Genomics 1997 Jun 15;42(3):393-6

Grant

R01EY07758/EY/NEI, CA34196/CA/NCI

Abstract

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.

Please contact the Joan Staats Library for information regarding this document.

Share

COinS