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Krcn1A/J
QTL Variant Detail
Summary
QTL variant: Krcn1A/J
Name: keratoconus 1; A/J
MGI ID: MGI:2388886
QTL: Krcn1  Location: unknown  Genetic Position: Chr17, cM position of peak correlated region/allele: 18.31 cM
QTL Note: genome coordinates based on the marker associated with the peak LOD score
Variant
origin
Strain of Specimen:  A/J
Variant
description
Allele Type:    QTL
Mutation:    Undefined
    This allele confers keratoconus resistance.
Inheritance:    Dominant
Notes

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

J:73835

Linkage analysis was performed on a population of (A/J x SKC)F1 x SKC backcross animals to map the locus responsible for heriditary keratoconus. Inbred strain SKC is a spontaneous mutant exhibiting a phenotype similar to the hereditary human corneal disease keratoconus. Adult male SKC animals develop keratoconus while adult male A/J animals do not. Interestingly, castrated SKC males exhibit a diminished phenotype and SKC females injected with testosterone develop keratoconus, indicating androgen-dependence of the phenotype. Krcn1, a locus at 18.7 cM on mouse Chromosome 17 was identified in linkage to keratoconus with a maximum LOD=9.77 at D17Mit32 and D17Mit34. Homozygosity for SKC-derived alleles at Krcn1 confers increased incidence of keratoconus. Krcn1 is linked to the H2 locus, and genes mapping near Krcn1 include C4, Tnxb, Cyp21a1, C4a, and Rds. Cyp21a1 and C4a are considered possible candidate genes for Krcn1.

References
Original:  J:73835 Tachibana M, et al., Androgen-dependent hereditary mouse keratoconus: linkage to an MHC region. Invest Ophthalmol Vis Sci. 2002 Jan;43(1):51-7
All:  1 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