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LP/Night blindness study

Genetics. 2008 August; 179(4): 1861–1870 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516064/ Does this mean they are very close to locating the mutation? Thanks, Daylene

NZ Appaloosas Fri, 03/20/2009 - 22:45

Depends on how you define "locating"...the "which gene is most likely candidate" has been known for some time. The "where on that gene" hunt is still under way.

Diane

horsegen Fri, 03/20/2009 - 22:50

That study showed that TRPM1 is most likely the gene that causes both LP and night blindness. When the researchers looked at the level of expression of TRPM1 in the skin and eyes appaloosa vs. non-appaloosa horses, they found that expression was much lower in appy horses (and VERY low in homozygous appy horses). So they've now known for a while that TRPM1 is causative of LP, but they have not yet been able to find a mutation in the gene that would explain how it's responsible. They're still looking.

Daylene Alford Fri, 03/20/2009 - 22:52

Thanks both of you...I wish I understood more of the genetic side of things...Just don't have time atm to try to learn it.