Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  9
• Reference
  J:62171 Akhmedov NB, et al., A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A. 2000 May 9;97(10):5551-6
• ID
  MGI:1859229

Genes

Gene	Allele	Assay Type
D9Mit72
Nr2e3	Nr2e3^rd7	direct sequencing, visible phenotype
D15Mit1007

Notes

• Experiment
  Authors used data from a backcross (168 meioses) and an intercross (1237 meioses) to map the rd7 mutation to a 0.36 +/- 0.16 cM region between D9Mit72 and D9Mit74. One clone from a pool of cDNAs enriched in photoreceptor-specific messages was mapped to the same region. Sequence analysis revealed that this cDNA was the Nr2e3 gene. Subsequent studies of the Nr2e3 gene identified a 0.38kb deletion in the 5' coding region of the gene in rd7 mutant mice. This deletion leads to a frameshift mutation creating a premature stop codon and the absence of any detectable transcripts in affected mice.