| First Author | Chang B | Year | 2024 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:346902 |
| Mgi Id | MGI:7619842 | Citation | Chang B (2024) B6.Cg-Trpm1rd15/Boc. MGI Direct Data Submission |
| abstractText | The spontaneous mutation retinal degeneration 15 (rd15) was discovered in our ocular phenotypes screening program in STOCK Tg(NES-TVA)J12Ech/J (JAX Stock No. 003529) in 2003. We made a congenic line by backcrossing the retinal phenotype onto C57BL/6J for 5 generations then sibling intercrossing to homozygosity for rd15. This homozygous strain was genotyped for Tg(NES-TVA)J12Ech, which was found absent. Mice homozygous for the rd15 mutation show a normal fundus, but no rod ERG b-wave and a poor cone ERG by 4 weeks of age. Histology shows a poor retinal outer plexiform layer at 5 months of age and retinal degeneration at 9 months of age. The inheritance pattern of the rd15 mutant allele is autosomal recessive. Linkage studies mapped this new mutant to mouse Chromosome 7, in a region between markers D7Mit230 and D7Mit82, suggesting that the human homolog may be on chromosome 15q13-q14. In 2011, Dr. Norimoto Gotoh in the laboratory of Dr. Anand Swaroop (Neurobiology Neurodegeneration & Repair Laboratory, National Eye Institute, NIH) discovered that the rd15 mice harbor a missense mutation (A725D) in exon 17 of the Trpm1 gene (Figure 1). Mutations in the TRPM1 Gene cause autosomal recessive complete congenital stationary night blindness-1C (CSNB1C) in human and the B6.Cg-Trpm1rd15/Boc strain (JAX Stock No. 018567) should be a good mouse model for human CSNB1C. Acknowledgment: This work was supported by National Institutes of Health grant 5R01EY019943. |
