Lrdg1^129S1/SvImJ
QTL Variant Detail

Summary

• QTL variant: Lrdg1^129S1/SvImJ
• Name: light induced retinal degeneration 1; 129S1/SvImJ
• MGI ID: MGI:3042612
• QTL: Lrdg1 Location: Chr1:73755175-147125370 bp Genetic Position: Chr1, cM position of peak correlated region/allele: 44.69 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: 129S1/SvImJ

Variant description

• Allele Type: QTL
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

Mapping and Phenotype information for this QTL, its variants and associated markers

J:89728

Linkage analysis was performed on a population of (BALB/cByJ x 129S1/SvImJ)F2 intercross animals to identify QTLs associated with light-induced retinal degeneration. Parental strain 129S1/SvImJ is resistant to light-induced retinal damage compared to parental strain BALB/cByJ. (10 days after light exposure BALB/cByJ exhibits greater photoreceptor loss compared to 129S1/SvImJ.) 71 polymorphic loci were typed in phenotypically extreme mice. Loci showing linkage were then analyzed in all 289 F2 animals.

Significant linkage to light-induced retinal degeneration was detected at approximately 59 cM near D1Mit48 (Lrdg1) on mouse Chromosome 1 (LOD=6.8) and at approximately 78 cM near D4Mit65 (Lrdg2) on mouse Chromosome 4 (LOD=6.8). The QTL interval of Lrdg1 spans 36.9 cM (D1Mit77) - 70 cM (D1Mit102) on chromosome 1. This locus accounts for 10% of the total variance. The QTL interval of Lrdg2 spans 60 cM (D4Mit203) - 81 cM (D4Mit42) on chromosome 4, and this locus accounts for 9% of the total variance. BALB/cByJ-derived alleles confer susceptibility to light-induced retinal degeneration with dominant/additive inheritance at Lrdg1 and additive inheritance at Lrdg2.

Suggestive linkage to light-induced retinal degeneration mapped to 33 cM near D6Mit209 on mouse Chromosome 6 (LOD=3.6) and 48 cM near D2Mit66 on mouse Chromosome 2 (LOD=2.8). The chromosome 6 locus accounts for 5% of the total variance and shows slight overlap with an age-related retinal degeneration QTL, Arrd1 at 35 cM, mapped by the same authorsin a previous study (Danciger et al., 2003, J:83546). The chromosome 2 locus accounts for 4% of the total variance.

References

• Original: J:89728 Danciger M, et al., New retinal light damage QTL in mice with the light-sensitive RPE65 LEU variant. Mamm Genome. 2004 Apr;15(4):277-83
• All: 1 reference(s)