RGD Reference Report - Quantitative trait loci on chromosome 1 for cataract and AMD-like retinopathy in senescence-accelerated OXYS rats. - Rat Genome Database

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Quantitative trait loci on chromosome 1 for cataract and AMD-like retinopathy in senescence-accelerated OXYS rats.

Authors: Korbolina, EE  Kozhevnikova, OS  Stefanova, NA  Kolosova, NG 
Citation: Korbolina EE, etal., Aging (Albany NY). 2012 Jan;4(1):49-59.
RGD ID: 7794750
Pubmed: PMID:22300709   (View Abstract at PubMed)
PMCID: PMC3292905   (View Article at PubMed Central)
DOI: DOI:10.18632/aging.100427   (Journal Full-text)

Age-related macular degeneration (AMD) and cataract are common age-related diseases in humans. Previously we showed that senescence-accelerated OXYS rats develop retinopathy and cataract, which are comparable to human AMD and senile cataract. Here we focused on the identification of quantitative trait loci (QTLs), which affect early-onset cataract and retinopathy in OXYS rats, using F2 hybrids bred by a reciprocal cross (OXYSxWAG and WAGxOXYS). Chromosome 1 showed significant associations between retinopathy and loci in the regions of markers D1Rat30 and D1Rat219 (QTL1) as well as D1Rat219 and D1Rat81 (QTL2); and between early cataract development with the locus in the region of the markers D1Rat219 and D1Rat81 (QTL2). To determine the effects of these QTLs, we generated two congenic strains by transferring chromosome 1 regions from OXYS into WAG background. Both congenic strains (named WAG/OXYS-1.1 and WAG/OXYS-1.2, respectively) display early cataract and retinopathy development. Thus, we confirmed that genes located in the analyzed regions of chromosome 1 are associated with the development of these diseases in OXYS rats.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Arrd3Ratcataract  IAGP  RGD 
OXYS/NovRatcataract MODEL:age-relatedIAGP  RGD 
Arrd1Ratmacular degeneration  IAGP  RGD 
Arrd2Ratmacular degeneration  IAGP  RGD 
OXYS/NovRatmacular degeneration MODEL:age-relatedIAGP  RGD 

Phenotype Annotations    Click to see Annotation Detail View

Mammalian Phenotype

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Arrd3Ratabnormal lens morphology  IDA  RGD 
Arrd1Ratabnormal retina layer morphology  IDA  RGD 
Arrd2Ratabnormal retina layer morphology  IDA  RGD 
OXYS/NovRatretina macular degeneration sexual_dimorphism IAGP compared to femaleRGD 

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Objects Annotated

Arrd1  (Age-related retinal degeneration QTL 1)
Arrd2  (Age-related retinal degeneration QTL 2)
Arrd3  (Age-related retinal degeneration QTL 3)

OXYS/Nov  (NA)
WAG/Nov  (NA)

Objects referenced in this article
Strain WAG.OXYS-(D1Rat219-D1Rat81)/Nov null Rattus norvegicus
Strain WAG.OXYS-(D1Rat30-D1Rat219)/Nov null Rattus norvegicus

Additional Information