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Morq1AKR/J
QTL Variant Detail
Summary
QTL variant: Morq1AKR/J
Name: modifier of Rs1 QTL 1; AKR/J
MGI ID: MGI:3784604
QTL: Morq1  Location: Chr7:97551681-97551791 bp  Genetic Position: Chr7, Syntenic
Variant
origin
Strain of Specimen:  AKR/J
Variant
description
Allele Type:    QTL
Mutation:    Undefined
 
Mutation detailsThis allele confers resistance to Rs1tmcg1-associated retinal schisis compared to C3H/Rl and C57BL/6JRn. (J:133513)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Notes

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

J:133513

Linkage analysis was performed to identify genetic modifiers of X-linked retinoschisis associated with the Rs1tmgc1 mutation. This mutation was generated by ENU mutatgenesis on a mixed C57BL/6JRn and C3H/Rl genetic background. Females homozygous for Rs1tmgc1 and hemizygous males display severe retinal schisis at 4 weeks of age gradually disappearing by 10 weeks of age. A population of 270 (AKR/J x STOCK-Rs1tmgc1)F2 male animals were genotyped at 80 polymorphic loci. The F2 animals displayed considerable variability in the retinal schisis phenotype.

Significant linkage was detected at chromosome 7. Fine-mapping with addition markers resulted in peak linkage at 48.5 cM with LOD=17.2 at D7Mit321. This locus is named Morq1 (modifier of Rs1 QTL 1).AKR/J-derived alleles at Morq1 confer recessively inherited resistance to retinal schisis, while C57BL/6JRn- and C3H/Rl-derived alleles at Morq1 confer susceptibility. Authors suspect epistatic interaction between Rs1 and Morq1.

The existence of Morq1 was confirmed using congenic line analysis. B6.Cg-Rs1tmgc1 congenic animals display 37% incidence of retinal schisis. When the Mor1AKR/J allele is present the incidence of retinal schisis drops to 0%. Interestingly, C3H.Cg-Rs1tmgc1 congenic animals display significant susceptibility to retinal schisis with 92% incidence. Penetrance of Rs1tmcg1 appears to differ on the C57BL/6JRn and C3H/Rl genetic backgrounds.

The Morq1 QTL interval is a 9 cM region flanked by D7Mit279 (37 cM) and D7Mit237 (52.8 cM) and contains roughly 635 genes. Potential candidate genes for Morq1 include Dlg2 (47.6 cM), Tmem126a, Tmem126b, Tmem135, Odz4 (47.7 cM), Tsku, and Fdz4.

References
Original:  J:133513 Johnson BA, et al., Genetic modification of the schisis phenotype in a mouse model of x-linked retinoschisis. Genetics. 2008 Mar;178(3):1785-94
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory