Hrdg1^C57BL/6J
QTL Variant Detail

Summary

• QTL variant: Hrdg1^C57BL/6J
• Name: hyperoxia-induced retinal degeneration 1; C57BL/6J>
• MGI ID: MGI:3714798
• Synonyms: Hrgd1^C57BL/6J
• QTL: Hrdg1 Location: unknown Genetic Position: Chr6, Syntenic

Variant origin

• Strain of Specimen: C57BL/6J

Variant description

• Allele Type: QTL
• Mutation: Undefined
• This allele confers susceptibility to hyperoxia-related retinal degeneration compared to A/J. (J:122134)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Notes

This allele is consistent with an additive or dominant mode of inheritance.

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

J:122134

Chromosome substitution strains (CSS) carrying A/J-derived donor chromosomes on a C57BL/6J genetic background were used to identify genetic loci involved in hyperoxia-induced retinal degeneration. Animals were exposed to 75% oxygen for 14 days and sacrificed for outer nuclear layer (ONL) measurements. Parental strain C57BL/6J is susceptible to hyperoxia-induced retinal degeneration compared to parental strain A/J.

B6-Chr 6^A/J displays little or no hyperoxia-induced retinal degeneration similar to donor strain A/J suggesting the presence of a protective QTL on chromosome 6. This QTL is named Hrdg1 (hyperoxia-related retinal degeneration 1). C57BL/6J-derived alleles at Hrdg1 confer susceptibility to hyperoxia-induced retinal degeneration with a dominant or additive mode of inheritance.

Gene expression and SNP analysis were used to identify potential candidate genes on chromosome 6. Pon2 at 1.5 cM is an example of a candidate gene that is expressed in eye tissue and contains SNPs in the 5' UTR region.

References

• Original: J:122134 Smit-McBride Z, et al., A strong genetic determinant of hyperoxia-related retinal degeneration on mouse chromosome 6. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):405-11
• All: 1 reference(s)