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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Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.
First published description of the causal variant -
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Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
First published description of the causal variant. -
Neutrophil elastase-processing defect in cyclic hematopoietic dogs.
First published description of the causal variant. -
Coat variation in the domestic dog is governed by variants in three genes.
First published description of the causal variant. -
DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia Gene.
First published description of the causal variant. -
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Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly
Primary publication for identification of variant. -
A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs
First published description of the causal variant. -
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