RGD Reference Report - Tyrosinase is the modifier of retinoschisis in mice. - Rat Genome Database

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Tyrosinase is the modifier of retinoschisis in mice.

Authors: Johnson, BA  Cole, BS  Geisert, EE  Ikeda, S  Ikeda, A 
Citation: Johnson BA, etal., Genetics. 2010 Dec;186(4):1337-44. doi: 10.1534/genetics.110.120840. Epub 2010 Sep 27.
RGD ID: 8694343
Pubmed: PMID:20876567   (View Abstract at PubMed)
PMCID: PMC2998315   (View Article at PubMed Central)
DOI: DOI:10.1534/genetics.110.120840   (Journal Full-text)

X-linked retinoschisis (XLRS) is a form of macular degeneration with a juvenile onset. This disease is caused by mutations in the retinoschisin (RS1) gene. The major clinical pathologies of this disease include splitting of the retina (schisis) and a loss in synaptic transmission. Human XLRS patients display a broad range in phenotypic severity, even among family members with the same mutation. This variation suggests the existence of genetic modifiers that may contribute to disease severity. Previously, we reported the identification of a modifier locus, named Mor1, which affects severity of schisis in a mouse model of XLRS (the Rs1tmgc1 mouse). Homozygosity for the protective AKR allele of Mor1 restores cell adhesion in Rs1tmgc1 mice. Here, we report our study to identify the Mor1 gene. Through collecting recombinant mice followed by progeny testing, we have localized Mor1 to a 4.4-Mb region on chromosome 7. In this genetic region, the AKR strain is known to carry a mutation in the tyrosinase (Tyr) gene. We observed that the schisis phenotype caused by the Rs1 mutation is rescued by a Tyr mutation in the C57BL/6J genetic background, strongly suggesting that Tyr is the Mor1 gene.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinoschisis treatmentIMP 8694343 RGD 
retinoschisis treatmentISOTYR (Homo sapiens)8694343; 8694343 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tyr  (tyrosinase)

Genes (Mus musculus)
Tyr  (tyrosinase)

Genes (Homo sapiens)
TYR  (tyrosinase)


Additional Information