The inversion in this stock 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. Retinal vessel attenuation, pigment spots, and optic atrophy appeared in the fundus at 4 weeks of age.Read More +
This strain is segregating for Rd4, a dominant retinal degeneration allele.
The inversion in this stock 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.
This autosomal dominant retinal degeneration was found in a stock carrying the chromosomal inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion is homozygous lethal and in heterozygotes is always associated with retinal degeneration.
|Allele Name||inversion, Chr 4, Roderick 56|
|Allele Type||Radiation induced|
|Allele Synonym(s)||inversion, Chr 4, Roderick 56; In(4)56Rk|
|Gene Symbol and Name||In(4)56Rk, inversion, Chr 4, Roderick 56|
|Strain of Origin||(DBA/2J x C57BL/6J)F1|
|General Note||This inversion is homozygous lethal.|
|Molecular Note||This is a large inversion on Chromosome 4 which arose in a DBA/2J male exposed to 1000R of radiation. It covers most of chromosome 4 with the breakpoints in G bands 4A1 and 4E2. The distal breakpoint of the inversion is in the second intron of the Gnb1 gene and the proximal breakpoint lies within the centromere.|
When using the STOCK In(4)56Rk/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #001379 in your Materials and Methods section.
|Heterozygous or Wild-type for In(4)56Rk|
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