Papillon Progressive Retinal Atrophy Type I (Pap_PRA1) 

For: Papillons and Phalenes

A team of researchers including Dr. Petersen-Jones, Dr. Myers-Dunlap and PhD student Paige Winkler, at the Michigan State University of Veterinary Medicine (MSU CVM) in collaboration with Dr. Ekenstedt at the University of Wisconsin River-Falls, have identified a genetic mutation that causes Progressive Retinal Atrophy (PRA) in the Papillon. Under terms of exclusive licensing by MSU, OptiGen is pleased to now provide Papillon breeders with the service of performing all DNA testing for the Pap_PRA1 mutation at our laboratory in Ithaca, NY.

The university research has revealed that more than one form of PRA is occurring in the Papillon. Unfortunately, only one form, caused by the Pap_PRA1 mutation, is currently detectable by DNA testing. Ongoing research will hopefully identify other mutation(s) responsible for PRA in the breed. If you know of any PRA-affected Papillons that have been diagnosed by a veterinary ophthalmologist, please encourage the owners to contact OptiGen to learn about Free DNA testing for these dogs and the ongoing PRA research.

Samples, including whole unclotted blood, cheek swabs, and/or semen, can be sent to OptiGen for  Pap_PRA1 testing.  As is the case with most forms of PRA, the Pap_PRA1 mutation is inherited in an autosomal recessive manner, meaning that two copies of the mutation must be inherited in order for disease to occur. Test results will be reported to the owner as one of three outcomes:


 
Expected results for breeding strategies using the
OptiGen 
mutation test for Papillon PRA1 (Pap_PRA1)
Parent 1 
Genotype
Parent 2 Genotype
Normal/Clear Carrier Affected
Normal/Clear All = Normal/Clear 1/2 = Normal/Clear
1/2 = Carrier
All = Carrier
Carrier 1/2 = Normal
1/2 = Carrier
 
1/4 = Normal/Clear 
1/2 = Carrier
1/4 = Affected
1/2 = Carrier
1/2 = Affected
Affected All = Carrier
 
1/2 = Carrier
1/2 = Affected
All = Affected