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HIGH QUALITY DNA
TESTING YOU CAN TRUST
OUR PANELS
The tests in our DNA health testing panels are selected based on the scientific evidence available for disorders in the breed. Our scientists stay up to date with the latest developments and discoveries in the field to ensure that our testing panels are as up-to-date as possible.
DID YOU KNOW?
Our ISO-accredited testing services are relied upon by UK police forces for assessing the suitability of canine recruits for police duties.
TESTIMONIALS
approx. 2 weeks
Typical turnaround
7
Conditions screened
Simple cheek swab
At-home sampling
UK laboratory
Tested in-house
Centronuclear MyopathyCNM
Centronuclear Myopathy (CNM) is a reduction in muscle fibres causing muscle weakness, abnormal posture and gait, and exercise intolerance and collapse. Symptoms are variable but dogs are generally weak by five months of age and progression of the disorder ends around one year.
Centronuclear Myopathy is an autosomal recessive condition caused by a mutation in the HACD1 gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop CNM, nor pass it on.
Carrier (N/CNM): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (CNM/CNM): two copies; expected to develop CNM. Discuss with your vet.
Exercise-Induced CollapseEIC
Exercise Induced Collapse (EIC) is a neuromuscular disorder. After strenuous activity affected dogs will display hindlimb weakness and incoordination with usually a return to normal after around 30 minutes.
An autosomal recessive condition caused by a mutation in the DNM1 gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop EIC, nor pass it on.
Carrier (N/EIC): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (EIC/EIC): two copies; expected to develop EIC. Discuss with your vet.
Hereditary Nasal ParakeratosisHNPK
Hereditary Nasal Parakeratosis (HNPK) causes a dry, rough, and crusty nose which can sometimes crack painfully. Affected dogs are otherwise healthy but the must be continually treated to prevent excessive dryness.
An autosomal recessive condition caused by a mutation in the SUV39H2 gene.
Note: Whippets present a different variant so this test is not applicable to Whippets as it is the Retriever type.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop HPNK, nor pass it on.
Carrier (N/HPNK): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (HPNK/HPNK): two copies; expected to develop HPNK. Discuss with your vet.
HyperuricosuriaHUU
Hyperuricosuria (HUU) is caused by a variant in the SLC2A9 gene, which affects how the body processes and removes uric acid. Affected dogs are at increased risk of developing urinary stones, which can cause signs such as blood in the urine, frequent or difficult urination, and in severe cases, urinary blockage. HUU is inherited as an autosomal recessive condition, meaning a dog must inherit two copies of the variant to be genetically affected.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop HUU, nor pass it on.
Carrier (N/HUU): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (HUU/HUU): two copies; expected to develop HUU. Discuss with your vet.
ItcthyosisICT
Ichthyosis (ICT) is a condition resulting in flaky skin and dull hair, which can vary greatly between affected dogs. Dogs are generally otherwise healthy but do have a risk of skin infection.
An autosomal recessive condition caused by a mutation in the PNPLA1 (Type A) Golden Retriever Type.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop ICT, nor pass it on.
Carrier (N/ICT): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (ICT/ICT): two copies; expected to develop ICT. Discuss with your vet.
Progressive Retinal Atrophy -PRCDPRA-PRCD
Progressive Retinal Atrophy, progressive rod-cone degeneration type (PRA-PRCD), is an inherited eye condition in which the light-sensing cells of the retina gradually break down. It leads to night blindness first, then progressive loss of vision, often ending in blindness. Onset and speed vary. Testing supports breeding choices and early awareness.
Signs to look for
Early night blindness or reluctance in the dark, bumping into things in low light, dilated pupils or a reflective 'shine' to the eyes, progressing to daytime vision loss.
How it's inherited
Recessive — a dog needs two copies of the variant to be affected.
What your result means
Clear (N/N): no copies; not expected to develop PRA-PRCD, nor pass it on.
Carrier (N/PRA): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (PRA/PRA): two copies; expected to develop PRA-PRCD. Discuss with your vet.
Skeletal Dysplasia 2SD2
Skeletal Dysplasia (SD2) causes short legs with a normal body, often slightly shorter in the front than the back legs. Height becomes 6cm smaller on average, though this can be variable due to other factors. Affected dogs are not prone to other health problems and lead a normal life.
An autosomal recessive condition caused by a mutation in the COL11A2 gene.
How it's inherited
Recessive
What your result means
Clear (N/N): no copies; not expected to develop SD2, nor pass it on.
Carrier (N/SD2): one copy. Healthy, but can pass it on. Breeding two carriers risks affected puppies.
Affected (SD2/SD2): two copies; expected to develop SD2. Discuss with your vet.
Centronuclear MyopathyCNM
- Gene
- HACD1
- Variant
- PTPLA*g9459-9460ins236
- Inheritance
- autosomal recessive
- OMIA
- OMIA001374 9615
Molecular mechanism
Centronuclear Myopathy (CNM) is an inherited neuromuscular disorder characterised by progressive skeletal muscle weakness, hypotonia and muscle atrophy, with clinical signs typically developing from approximately one month of age, although onset may occasionally be delayed until six months of age (Walmsley et al., 2017). Disease severity is variable, ranging from reduced exercise tolerance and gait abnormalities to marked muscle atrophy and collapse (McKerrel \u0026amp; Braund, 1987; Blot et al., 2002). Some affected dogs develop oesophageal muscle weakness, resulting in difficulty swallowing and an increased risk of sudden death, while clinical signs may also be exacerbated by exposure to cold temperatures (McKerrel \u0026amp; Braund, 1987).
Centronuclear Myopathy is inherited as an autosomal recessive condition. Pelé et al., (2005) identified a SINE insertion (PTPLA.9459_9460ins236) in exon 2 of the PTPLA (HACD1) gene on canine chromosome 2 (CFA2) as the causative variant. A worldwide survey of 7,426 Labrador Retrievers identified all 80 clinically affected dogs as homozygous for the variant, while none of the 1,172 heterozygous dogs developed disease, supporting its role as the causative mutation (Maurer et al., 2012). The carrier frequency was reported to be particularly high in the UK (19%), highlighting the importance of genetic testing to identify carriers and inform breeding decisions (Maurer et al., 2012).
References
Blot, S., Tiret, L., Devillaire, A.C., Fardeau, M., Dreyfus, P.A. : Phenotypic description of a canine centronuclear myopathy. Journal of Neurological Science 199:S9, 2002.
Maurer, M., Mary, J., Guillaud, L., Fender, M., Pelé, M., Bilzer, T., Olby, N., Penderis, J., Shelton, G.D., Panthier, J.J., Thibaud, J.L., Barthélémy, I., Aubin-Houzelstein, G., Blot, S., Hitte, C., Tiret, L. : Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 7:e46408, 2012. Pubmed reference: 23071563. DOI: 10.1371/journal.pone.0046408.
McKerrell, R.E., Braund, K.G. : Hereditary myopathy in Labrador Retrievers: clinical variations. Journal of Small Animal Practice 28:479–489, 1987.
Walmsley, G.L., Blot, S., Venner, K., Sewry, C., Laporte, J., Blondelle, J., Barthelemy, I., Maurer, M., Blanchard-Gutton, N., Pilot-Storck, F., et al. (2017). Progressive structural defects in canine centronuclear myopathy indicate a role for HACD1 in maintaining skeletal muscle membrane systems. Am. J. Pathol. 187, 441-456. https://doi.org/10.1016/j.ajpath.2016.10.002
Exercise-Induced CollapseEIC
- Gene
- DNM1
- Variant
- c.767G>T; p.Arg256Leu
- Inheritance
- autosomal recessive
- OMIA
- OMIA001466 9615
Molecular mechanism
Exercise-Induced Collapse (EIC) is characterised by transient episodes of muscle weakness and collapse triggered by strenuous exercise in otherwise healthy young dogs. Clinical signs typically develop within 2 minutes of completing 5–15 minutes of intense exercise and include hindlimb weakness, incoordination and an unsteady gait, which may progress to collapse, extensor rigidity, loss of consciousness and, in rare cases, death. Most dogs recover completely within approximately 30 minutes (Taylor et al., 2008; Patterson et al., 2008).
In retriever breeds, EIC is inherited as an autosomal recessive condition. Patterson et al., (2008) identified a missense mutation (c.767G\u0026gt;T; p.Arg256Leu) in exon 6 of the DNM1 gene on canine chromosome 9 (CFA9) as the causative variant. The variant has been reported in Labrador Retrievers, Chesapeake Bay Retrievers and Curly Coated Retrievers, allowing genetic testing to identify affected and carrier dogs. In a Midwestern US population of Labrador Retrievers, the variant was reported at a relatively high frequency, with 37% of dogs identified as carriers and 3% as homozygous affected, highlighting the importance of genetic testing to inform breeding decisions (Patterson et al., 2008). Although Border Collies can exhibit similar clinical signs, no causative variant has yet been identified for this breed; therefore, this genetic test is not applicable to Border Collies (Norton et al., 2021).
References
Norton, E.M., Minor, K.M., Taylor, S.M., McCue, M.E., Mickelson, J.R. : Heritability and genomic architecture of episodic exercise-induced collapse in Border Collies. Genes (Basel) 12:1927, 2021. Pubmed reference: 34946876. DOI: 10.3390/genes12121927.
Patterson, EE., Minor, KM., Tchernatynskaia, AV., Taylor, SM., Shelton, GD., Ekenstedt, KJ., Mickelson, JR. : A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet 40:1235-9, 2008. Pubmed reference: 18806795. DOI: 10.1038/ng.224.
Taylor, SM., Shmon, CL., Shelton, GD., Patterson, EN., Minor, K., Mickelson, JR. : Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability. J Am Anim Hosp Assoc 44:295-301, 2008. Pubmed reference: 18981194.
Hereditary Nasal ParakeratosisHNPK
- Gene
- SUV39H2
- Variant
- Labrador c.972T>G; p.Asn324Lys
- Inheritance
- autosomal recessive
- OMIA
- OMIA001373 9615
Molecular mechanism
Hereditary Nasal Parakeratosis (HNPK) is an inherited skin disorder characterised by the development of crusting and fissuring of the nasal planum from a young age. Affected dogs are otherwise healthy, with the condition primarily affecting the nasal epidermis. Histopathological examination reveals marked parakeratotic hyperkeratosis, characterised by retention of nuclei within the stratum corneum and accumulation of proteinaceous fluid within the superficial epidermal layers (Jagannathan et al., 2013).
HNPK is inherited as an autosomal recessive condition (Page et al., 2003). Jagannathan et al., (2013) identified a missense mutation (c.972T\u0026gt;G; p.Asn324Lys) in the SUV39H2 gene on canine chromosome 2 (CFA2) as the causative variant in Labrador Retrievers.
Note: Whippets present a different variant so this test is not applicable to Whippets as it is the Retriever type.
References
Jagannathan, V., Bannoehr, J., Plattet, P., Hauswirth, R., Drögemüller, C., Drögemüller, M., Wiener, D.J., Doherr, M., Owczarek-Lipska, M., Galichet, A., Welle, M.M., Tengvall, K., Bergvall, K., Lohi, H., Rüfenacht, S., Linek, M., Paradis, M., Müller, E.J., Roosje, P., Leeb, T. : A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet 9:e1003848, 2013. Pubmed reference: 24098150. DOI: 10.1371/journal.pgen.1003848.
Page, N., Paradis, M., Lapointe, J.M., Dunstan, R.W. : Hereditary nasal parakeratosis in Labrador Retrievers Veterinary Dermatology 14:103-10, 2003. Pubmed reference: 12662268.
HyperuricosuriaHUU
- Gene
- SLC2A9
- Variant
- c.616G>T; p.Cys188Phe
- Inheritance
- autosomal recessive
- OMIA
- OMIA000256 9615
Molecular mechanism
Hyperuricosuria (HUU)or Urolithiasis is an inherited metabolic disorder characterised by impaired uric acid transport, resulting in increased urinary excretion and blood concentrations of uric acid. Affected dogs are predisposed to the formation of ammonium urate uroliths within the urinary tract, although not all dogs carrying the causative variant will develop the disease (Bannasch et al., 2008). Clinical signs are associated with stone formation and may include haematuria, pollakiuria, dysuria and urethral obstruction, while severe obstruction can result in systemic illness including anorexia, vomiting, collapse and metabolic disturbances (Bartges et al., 1999; Bartges and Callens, 2015).
Hyperuricosuria is inherited as an autosomal recessive condition; however, the SLC2A9 variant represents a genetic risk factor for urate urolithiasis rather than a definitive predictor of clinical disease. Bannasch et al., (2008) identified a missense mutation (c.616G\u0026gt;T; p.Cys188Phe) in the SLC2A9 gene on canine chromosome 3 (CFA3) as the causative variant. The variant is fixed in Dalmatians, with all dogs reported to be homozygous, but has also been identified at lower frequencies in several other breeds, including Labrador Retrievers, Bulldogs, German Shepherd Dogs and Pomeranians (Bannasch et al., 2008; Karmi et al., 2010; Cosgrove et al., 2015).
References
Bannasch, D., Henthorn, PS. : Changing paradigms in diagnosis of inherited defects associated with urolithiasis. Vet Clin North Am Small Anim Pract 39:111-25, 2009. Pubmed reference: 19038654. DOI: 10.1016/j.cvsm.2008.09.006.
Bannasch, D., Safra, N., Young, A., Karmi, N., Schaible, RS., Ling, GV. : Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246, 2008. Pubmed reference: 18989453. DOI: 10.1371/journal.pgen.1000246.
Bartges, J.W., Callens, A.J. : Urolithiasis. Vet Clin North Am Small Anim Pract 45:747-68, 2015. Pubmed reference: 26002797. DOI: 10.1016/j.cvsm.2015.03.001.
Bartges, J.W., Osborne, C.A., Lulich, J.P., Kruger, J.M., Sanderson, S.L., Koehler, L.A., Ulrich, L.K. : Canine urate urolithiasis. Etiopathogenesis, diagnosis, and management. Vet Clin North Am Small Anim Pract 29:161-91, xii-xiii, 1999. Pubmed reference: 10028157. DOI: 10.1016/s0195-5616(99)50010-7.
Cosgrove, L., Hammond, G., Mclauchlan, G. : Primary portal vein hypoplasia and SLC2A9 mutation associated with urate urolithiasis in a Spanish water dog. Can Vet J 56:1153-7, 2015. Pubmed reference: 26538670.
Karmi, N., Safra, N., Young, A., Bannasch, DL. : Validation of a urine test and characterization of the putative genetic mutation for hyperuricosuria in Bulldogs and Black Russian Terriers. Am J Vet Res 71:909-14, 2010. Pubmed reference: 20673090. DOI: 10.2460/ajvr.71.8.909.
ItcthyosisICT
- Gene
- PNPLA1
- Variant
- p.N482Ifs*11
- Inheritance
- autosomal recessive
- OMIA
- OMIA001588 9615
Molecular mechanism
Ichthyosis is an inherited skin disorder characterised by abnormal skin formation and shedding, resulting in dry, flaky skin, scaling, and changes to the coat. Several genetic causes of ichthyosis have been identified in dogs, with different variants associated with specific breeds. Affected dogs typically develop signs shortly after birth, including abnormal coat appearance, generalised scaling, dry skin, and adherent skin flakes, often accompanied by skin redness (Mauldin et al., 2015).
The PNPLA1-related form was first identified by Grall et al., (2012) in Golden Retrievers. The causative variant is an insertion-deletion in the PNPLA1 gene located on chromosome CFA12 (c.1445_1447delinsTACTACTA or p.N482Ifs*11), which causes a frameshift and premature stop codon, resulting in a defective protein.
Inherited as autosomal recessive condition. Genetic testing can identify dogs carrying known ichthyosis-associated variants and may assist breeders in making informed breeding decisions to reduce the risk of producing affected offspring.
References
Briand, A., Cochet-Faivre, N., Reyes-Gomez, E., Jaraud-Darnault, A., Tiret, L., Chevallier, L. : NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. Vet Med Sci 5:112-117, 2019. Pubmed reference: 30741495. DOI: 10.1002/vms3.149.
Casal, M.L., Wang, P., Mauldin, E.A., Lin, G., Henthorn, P.S. : A defect in NIPAL4 is associated with autosomal recessive congenital ichthyosis in American bulldogs. PLoS One 12:e0170708, 2017. Pubmed reference: 28122049. DOI: 10.1371/journal.pone.0170708.
Mauldin, E.A., Wang, P., Evans, E., Cantner, C.A., Ferracone, J.D., Credille, K.M., Casal, M.L. : Autosomal recessive congenital ichthyosis in American bulldogs is associated with NIPAL4 (ICHTHYIN) deficiency. Vet Pathol 52:654-62, 2015. Pubmed reference: 25322746. DOI: 10.1177/0300985814551425.
Progressive Retinal Atrophy -PRCDPRA-PRCD
- Gene
- PRCD
- Variant
- c.5G>A (p.Cys2Tyr)
- Inheritance
- autosomal recessive
- OMIA
- OMIA 001298 9615
- Reported frequency
- A single PRCD variant is shared across a large number of breeds, making it one of the most commonly tested PRA forms.
Molecular mechanism
Progressive retinal atrophy (PRA) encompasses a genetically heterogeneous group of inherited retinal degenerative disorders characterised by the progressive loss of photoreceptor function, ultimately resulting in irreversible blindness. Although the clinical presentation is broadly similar across affected breeds, with initial degeneration of rod photoreceptors causing night blindness followed by cone degeneration and progressive loss of daylight vision, numerous genetically distinct forms of PRA have been identified (Miyadera et al., 2012; Mowat et al., 2024). Advances in canine molecular genetics have demonstrated that variants in multiple genes involved in photoreceptor development, maintenance and function can produce clinically similar retinal phenotypes. Consequently, breed-specific genetic testing is required, as different forms of PRA are associated with different causative variants.
PRA-PRCD is an autosomal recessive form of progressive retinal atrophy caused by a missense variant in the PRCD gene. PRCD Zangerl et al., (2006) identified a c.5G\u0026gt;A (p.Cys2Tyr) variant that has been reported across numerous dog breeds. Affected dogs are born with normal vision but gradually develop night blindness, progressing to complete blindness as both rod and cone photoreceptors degenerate. Widespread genetic testing has substantially reduced the frequency of this variant in several breeds, although carriers and affected dogs continue to be identified (Zangerl et al., 2006; Lewis \u0026amp; Mellersh, 2019; Clark et al., 2023).
The expanding number of recognised PRA-associated variants highlights the marked genetic heterogeneity underlying inherited retinal degeneration in dogs. While many of these variants are breed-specific, others are shared across multiple breeds through historical founder events. Genetic testing enables accurate identification of affected and carrier dogs, supporting informed breeding decisions aimed at reducing disease prevalence while preserving genetic diversity. As additional causative variants continue to be identified, molecular testing will remain an important tool for improving the diagnosis, management and long-term control of progressive retinal atrophy in canine populations (Lewis \u0026amp; Mellersh, 2019; Mowat et al., 2024).
References
References
Aguirre, G.D., Lohi, H., Kaukonen, M., Murgiano, L. : Formal commentary. PLoS Genet 16:e1009059, 2020. Pubmed reference: 33151924. DOI: 10.1371/journal.pgen.1009059.
Clark, J.A., Anderson, H., Donner, J., Pearce-Kelling, S., Ekenstedt, K.J. : Global frequency analyses of canine progressive rod-cone degeneration-progressive retinal atrophy and Collie eye anomaly using commercial genetic testing data. Genes (Basel) 14:2093, 2023. Pubmed reference: 38003037. DOI: 10.3390/genes14112093.
Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. : A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255. DOI: 10.1111/j.1365-2052.2012.02379.x.
Downs, L.M., Mellersh, C.S. : An intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One 9:e93990, 2014. Pubmed reference: 24705771. DOI: 10.1371/journal.pone.0093990.
Downs, L.M., Wallin-Håkansson, B., Bergström, T., Mellersh, C.S. : A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321. DOI: 10.1186/2052-6687-1-4.
Goldstein, O., Mezey, JG., Boyko, AR., Gao, C., Wang, W., Bustamante, CD., Anguish, LJ., Jordan, JA., Pearce-Kelling, SE., Aguirre, GD., Acland, GM. : An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9. Mol Vis 16:1549-69, 2010. Pubmed reference: 20806078.
Karlskov-Mortensen, P., Proschowsky, H.F., Gao, F., Fredholm, M. : Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet 49:237-241, 2018. Pubmed reference: 29624701. DOI: 10.1111/age.12659.
Kaukonen, M., Quintero, I.B., Mukarram, A.K., Hytönen, M.K., Holopainen, S., Wickström, K., Kyöstilä, K., Arumilli, M., Jalomäki, S., Daub, C.O., Kere, J., Lohi, H. : A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLoS Genet 16:e1008659, 2020. Pubmed reference: 32150541. DOI: 10.1371/journal.pgen.1008659.
Kropatsch, R., Petrasch-Parwez, E., Seelow, D., Schlichting, A., Gerding, WM., Akkad, DA., Epplen, JT., Dekomien, G. : Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene. Mol Cell Probes 24:357-63, 2010. Pubmed reference: 20691256. DOI: 10.1016/j.mcp.2010.07.007.
Lewis, T.W., Mellersh, C.S. : Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864.
Mellersh, CS., Boursnell, ME., Pettitt, L., Ryder, EJ., Holmes, NG., Grafham, D., Forman, OP., Sampson, J., Barnett, KC., Blanton, S., Binns, MM., Vaudin, M. : Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics 88:293-301, 2006. Pubmed reference: 16806805. DOI: 10.1016/j.ygeno.2006.05.004.
Mowat, F.M., Iwabe, S., Aguirre, G.D., Petersen-Jones, S.M. : Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol 28:663-667, 2024. Pubmed reference: 38334230. DOI: 10.1111/vop.13185.
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
Murgiano, L., Becker, D., Torjman, D., Niggel, J.K., Milano, A., Cullen, C., Feng, R., Wang, F., Jagannathan, V., Pearce-Kelling, S., Katz, M.L., Leeb, T., Aguirre, G.D. : Complex structural PPT1 variant associated with non-syndromic canine retinal degeneration. G3 (Bethesda) 9:425-437, 2019. Pubmed reference: 30541930. DOI: 10.1534/g3.118.200859.
Petersen-Jones, S.M., Entz, D.D., Sargan, D.R. : CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology \u0026amp; Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029.
Suber, M.L., Pittler, S.J., Qin, N., Wright, G.C., Holcombe, V., Lee, R.H., Craft, C.M., Lolley, R.N., Baehr, W., Hurwitz, R.L. : Irish Setter Dogs Affected with Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase beta- Subunit Gene Proceedings of the National Academy of Sciences of the United States of America 90:3968-3972, 1993. Pubmed reference: 8387203.
Svensson, M., Olsén, L., Winkler, P.A., Petersen-Jones, S.M., Bergström, T., Garncarz, Y., Narfström, K. : Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol 19:195-205, 2016. Pubmed reference: 26009980. DOI: 10.1111/vop.12284.
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106. DOI: 10.1111/age.12323.
Winkler, P.A., Ekenstedt, K.J., Occelli, L.M., Frattaroli, A.V., Bartoe, J.T., Venta, P.J., Petersen-Jones, S.M. : A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. PLoS One 8:e72229, 2013. Pubmed reference: 23977260. DOI: 10.1371/journal.pone.0072229.
Zangerl, B., Goldstein, O., Philp, AR., Lindauer, SJ., Pearce-Kelling, SE., Mullins, RF., Graphodatsky, AS., Ripoll, D., Felix, JS., Stone, EM., Acland, GM., Aguirre, GD. : Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics 88:551-563, 2006. Pubmed reference: 16938425. DOI: 10.1016/j.ygeno.2006.07.007.
Skeletal Dysplasia 2SD2
- Gene
- COL11A2
- Variant
- COL11A2:c.143G>C
- Inheritance
- autosomal recessive
- OMIA
- OMIA001772 9615
Molecular mechanism
Skeletal Dysplasia 2 (SD2) is an inherited mild form of disproportionate dwarfism in Labrador Retrievers, characterised by shortened limbs with a normal body length and width. Affected dogs have an average reduction in shoulder height of approximately 6 cm (Frischknecht et al., 2013). As shoulder height is influenced by both genetic and environmental factors, affected dogs cannot always be reliably identified by physical appearance alone (Frischknecht et al., 2013).
Skeletal Dysplasia 2 is inherited as a monogenic autosomal recessive condition. Frischknecht et al., (2013) identified a missense mutation (c.143G\u0026gt;C; p.Arg48Pro) in the COL11A2 gene on canine chromosome 12 (CFA12) as the most likely causative variant. The carrier frequency was estimated at approximately 12% in the European Labrador Retriever population at the time of variant discovery, highlighting the value of genetic testing to confirm the diagnosis and inform breeding decisions (Frischknecht et al., 2013).
References
Frischknecht, M., Niehof-Oellers, H., Jagannathan, V., Owczarek-Lipska, M., Drögemüller, C., Dietschi, E., Dolf, G., Tellhelm, B., Lang, J., Tiira, K., Lohi, H., Leeb, T. : A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One 8:e60149, 2013. Pubmed reference: 23527306. DOI: 10.1371/journal.pone.0060149.
