Genetic Test References
Peer-reviewed papers identifying the original phene variant. Includes breed-specific references associated with genetic tests and variants.
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Localization of white spotting locus in Boxer dogs on CFA20 by genome-wide linkage analysis with 1500 SNPs.
Publication of description of first identified causal variant. -
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.
First published description of the causal variant for this genetic test. -
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Neonatal cerebellar ataxia in Coton de Tulear dogs
Breed-specific genetic reference for causal variant -
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Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
Primary publication for identification and description of PRA-prcd in dogs. -
Characterization of different 5'-untranslated exons of the ASIP gene in black-and-tan Doberman Pinscher and brindle Boxer dogs
Breed-specific coat colour and pattern for black and tan and brindle -
Identification of a mutation that is associated with the saddle tan and black-and-tan phenotypes in Basset Hounds and Pembroke Welsh Corgis.
Breed-specific paper on coat colour/pattern for saddle tan and black-and-tan phenotypes -
A SINE Insertion Causes the Black-and-Tan and Saddle Tan Phenotypes in Domestic Dogs.
Black and Saddle Tan phenotypes -
Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs.
First publication associated with the specific causal variant. -
FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs.
Brown, E.A., Dickinson, P.J., Mansour, T., Sturges, B.K., Aguilar, M., Young, A.E., Korff, C., Lind, J., Ettinger, C.L., Varon, S., Pollard, R., Brown, C.T., Raudsepp,... -
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.
First publication associated with the phene/variants -
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ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs.
First publication of phene/variants -
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A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia.
First published article on disease/variant -
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
First Publication associated with the genetic variant. -
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Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A.: Canine CNGB3 mutations establish cone... -
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).
2017 Meyers-Wallen, V.N., Boyko, A.R., Danko, C.G., Grenier, J.K., Mezey, J.G., Hayward, J.J., Shannon, L.M., Gao, C., Shafquat, A., Rice, E.J., Pujar, S., Eggers, S.,... -
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
Furrow E, Pfeifer RJ, Osborne CA, Lulich JP, 2014 Mar; An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in... -
Morphological evaluation of clefts of the lip, palate, or both in dogs.
Peralta, S., Fiani, N., Kan-Rohrer, K.H., Verstraete, F.J.M. : Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res 78:926-933, 2017.... -
A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genet 10:e1004257
Wolf, Z.T., Leslie, E.J., Arzi, B., Jayashankar, K., Karmi, N., Jia, Z., Rowland, D.J., Young, A., Safra, N., Sliskovic, S., Murray, J.C., Wade, C.M., Bannasch, D.L. : A... -