Test Detail
Australian Cattle Dog pack: prcd-PRA, rcd4-PRA, Cystinuria, NCL, PLL and DM exon 2
General · Dog
Multidisease genetic panel for the Australian Cattle Dog that groups six molecular tests for hereditary conditions described in the breed: two forms of progressive retinal atrophy (prcd-PRA and rcd4-PRA), cystinuria, neuronal ceroid lipofuscinosis (NCL), primary lens luxation (PLL) and degenerative myelopathy (DM exon 2). Each test reports the clear/carrier/affected status for the corresponding variant and allows matings to be planned avoiding diseased animals. The panel does not replace the ocular examination or clinical monitoring: several conditions are late-onset or have variable penetrance, and the molecular test is only one part of reproductive management.
Incidence
Applicable breed: Australian Cattle Dog. Type II-A cystinuria was described in this breed (OMIA:001879-9615) and NCL5 is documented in the Australian Cattle Dog and the Border Collie. There are no published carrier frequency estimates in the breeding population for the six variants (limited data).
Breeder management
- Genotype breeding animals before mating; the panel covers six conditions in a single sample
- For the recessive conditions (prcd-PRA, rcd4-PRA, NCL5, PLL, DM): do not mate two carriers — 25% risk of homozygotes; carrier × clear is safe for offspring intended for breeding if tested
- For type II-A cystinuria (dominant): neither heterozygotes nor homozygotes should be bred, since ~50% of the offspring inherit the variant; only clear × clear guarantees clear offspring
- For PLL: prioritise clear animals and maintain the annual ophthalmological examination
- For DM: remember the incomplete penetrance; homozygotes are not a breeding priority
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status
- For the recessive conditions (prcd-PRA, rcd4-PRA, NCL5, PLL, DM): do not mate two carriers — 25% risk of homozygotes; carrier × clear is safe for offspring intended for breeding if tested
- For type II-A cystinuria (dominant): neither heterozygotes nor homozygotes should be bred, since ~50% of the offspring inherit the variant; only clear × clear guarantees clear offspring
- For PLL: prioritise clear animals and maintain the annual ophthalmological examination
- For DM: remember the incomplete penetrance; homozygotes are not a breeding priority
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status
Specialist notes
Check the exact panel offered by each laboratory, because not all of them include the six variants for the Australian Cattle Dog. Annual ocular examination (ECVO/CERF) is complementary. rcd4-PRA is due to C2orf71/PCARE and not to CNGB3; prcd-PRA is due to PRCD. PLL is autosomal recessive (OMIA:000588-9615) and must be differentiated from traumatic luxation or luxation secondary to uveitis. Cystinuria is confirmed by urinary amino acid analysis and stone analysis (hexagonal cystine crystals). NCL5 requires confirmatory histopathological or immunohistochemical study. DM is a diagnosis of exclusion: rule out spinal cord compression, disc herniation and neoplasia before attributing the condition to SOD1.
References
1. Zangerl B, et al. Genomics. 2006. PMID: 16938425.
2. Downs LM, et al. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet. 2013. PMID: 22686255.
3. Downs LM, et al. Genetic screening for PRA-associated mutations in multiple dog breeds. Vet Ophthalmol. 2014. PMID: 24255994.
4. Brons AK, et al. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med. 2013. PMID: 24001348.
5. Melville SA, et al. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics. 2005. PMID: 16033706.
6. Kolicheski A, et al. Australian Cattle Dogs with neuronal ceroid lipofuscinosis are homozygous for a CLN5 nonsense mutation previously identified in Border Collies. J Vet Intern Med. 2016. PMID: 27203721.
7. Farias FH, et al. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci. 2010. PMID: 20375329.
8. Awano T, et al. PNAS. 2009. PMID: 19188595.
OMIA:001575-9615 (rcd4/C2orf71); OMIA:001879-9615 (cistinuria tipo II-A); OMIA:001482-9615 (NCL5); OMIA:000588-9615 (PLL).
2. Downs LM, et al. Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet. 2013. PMID: 22686255.
3. Downs LM, et al. Genetic screening for PRA-associated mutations in multiple dog breeds. Vet Ophthalmol. 2014. PMID: 24255994.
4. Brons AK, et al. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med. 2013. PMID: 24001348.
5. Melville SA, et al. A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics. 2005. PMID: 16033706.
6. Kolicheski A, et al. Australian Cattle Dogs with neuronal ceroid lipofuscinosis are homozygous for a CLN5 nonsense mutation previously identified in Border Collies. J Vet Intern Med. 2016. PMID: 27203721.
7. Farias FH, et al. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci. 2010. PMID: 20375329.
8. Awano T, et al. PNAS. 2009. PMID: 19188595.
OMIA:001575-9615 (rcd4/C2orf71); OMIA:001879-9615 (cistinuria tipo II-A); OMIA:001482-9615 (NCL5); OMIA:000588-9615 (PLL).