Mapping Data

Experiment

• Experiment
  TEXT-QTL
• Chromosome
  17
• Reference
  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
• ID
  MGI:2388889

Genes

Gene	Assay Type
Krcn1	resistance/susceptibility
D17Mit32
D17Mit34
H2	reported elsewhere
C4b	reported elsewhere
Tnxb	reported elsewhere
Cyp21a1	reported elsewhere
C4a	reported elsewhere
Prph2	reported elsewhere

Notes

• Experiment
  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.