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. 2011 Sep 13;52(10):7256–7266. doi: 10.1167/iovs.11-8112

Figure 4.

Figure 4.

(A) rdx maps to a 25-Mbp region on chromosome 9. (horizontal bars) Genotypes of individual animals at the loci indicated along the bottom. (red) 129S4. (blue) C57Bl/6J. (yellow) Heterozygous. Loci in red fell within the linkage region. (B) Sequencing of candidate genes identified a single nucleotide deletion in exon 3 of MFRP, denoted by the asterisk. (C) PCR-RFLP genotyping of genomic DNA distinguishes Mfrp174delG and wild-type alleles. (D) A genetic complementation experiment produced 27 Mfrp174delG/rd6 hybrid animals that manifested the same fundus phenotype as both parental strains. A fundus image of a representative 2.5-month-old hybrid is shown. (E) Protein structure of MFRP and predicted structure of mutant MFRP alleles. TM, transmembrane domain; CUB, CUB domain; L, LDLR domain; FZD, Frizzled domain; NS, nonsense.