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Papillon PRA Type I        Pap_PRA1 Test       Code  308

Test Pricing

For breeds: Papillon and Phalene

Progressive Retinal Atrophy in the Papillion and Phalele breeds, Pap_ PRA1, is a late onset inherited eye disease characterized by a slow degeneration of rod photoreceptors. The affected dogs start to show clinical signs of the disease and poor vision in dim light between 4 and 6 years of age. 

A mutation in the CNGB1 gene associated with the Pap_PRA1 has been identified in the Papillion breed (1, 2). The Pap_PRA1 is inherited in an autosomal recessive manner, meaning that two copies of the mutation must be inherited in order for disease to occur.

The Pap_PRA1 test results are reported as one of three outcomes:

  • Normal/Clear—These dogs do not carry the Pap_PRA1 mutation. They will not develop the form of PRA due to the Pap_PRA1 mutation. These dogs may be mated to any other dog and no offspring affected with Pap_PRA1 will be produced.

  • Carrier—These dogs carry ONE copy of the Pap_PRA1 mutation. They will not develop the form of PRA due to the Pap_PRA1 mutation but they CAN pass the mutation on to their offspring. They should only be mated to a dog that is genetically Normal/Clear to avoid producing PRA1-affected progeny due to the Pap_PRA1 mutation.

  • Affected—These dogs carry two copies of the Pap_PRA1 mutation and it can be expected that they will develop PRA1 in their lifetime.

Breeding recommendations: 

It is recommended to test dogs prior to mating and to ensure that at least one parent is Normal/Clear of the mutation to avoid production of affected progeny.


Expected results for breeding strategies using the
Pap_PRA1 Test
Parent 1
Genotype
Parent 2 Genotype
Normal/ClearCarrierAffected
Normal/ClearAll = Normal/Clear1/2 = Normal/Clear
1/2 = Carrier
All = Carrier
Carrier1/2 = 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

Note: There is more than one form of PRA occurring in the Papillon and Phalene breeds. 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.

References:

1.  Ahonen SJ, Arumilli M, Lohi H. A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy. PLoS One. 2013 Aug 28;8(8):e72122.

2.  Winkler PA, Ekenstedt KJ, Occelli LM, Frattaroli AV, Bartoe JT, Venta PJ, Petersen-Jones SM. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. PLoS One. 2013 Aug 19;8(8):e72229


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Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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