ABCDEFGHIJK
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TYPEGENEDiseasePubMedOMIAYear PublishedType of VariantBreed Discovered in (from OMIA)Description of variant (from OMIA)
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Blood DisordersF9Hemophilia B factor IX deficiency2481310000438-96151989missenseCairn Terrierc.1477G>A; p.G379E
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Blood DisordersPFKMGlycogen storage disease VII8702726000421-96151996nonsense (stop-gain)American cocker spaniel, English Springer Spaniel, Whippetc.2228G>A; p.W???*
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Blood DisordersF9Hemophilia B factor IX deficiency8896410000438-96151996deletion, small (<=20)Lhasa Apsoa deletion including nucleotides 772-776 and a C-->T transition at nucleotide 777
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Blood DisordersVWFVon Willebrand disease IIInot in PubMed001058-96151998deletion, small (<=20)Shetland SheepdogLehner et al. (2018; G3: Genes, Genomes, Genetics February 1, 2018 vol. 8 no. 2 577-585; https://doi.org/10.1534/g3.117.300432): 1-base deletion within exon 7 is the putative cause for VWD in the Shetland Sheepdog (Venta et al. 1998) [Venta, P. J., G. J. Brewer, V. Yuzbasiyan-Gurkan, W. D. Schall, and J. Duffendeck, 1998‰ÛÄInventors; The Regents of the University of Michigan, assignee. DNA encoding canine von Willebrand factor and methods of use. United States patent US6074832A. 1998 Aug 11.]
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Blood DisordersVWFVon Willebrand disease III9716162001058-96151998splicingDutch Kooikera G>A base substition at the first position of the donor splice site sequence of intron 16
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Blood DisordersF9Hemophilia B factor IX deficiency10544912000438-96151999deletion, gross (>20)Airedale Terriera deletion spanning the entire 5 region of the factor IX gene extending to exon 6
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Blood DisordersF9Hemophilia B factor IX deficiency10544912000438-96151999insertion, gross (>20)Airedale TerrierAn approximately 5 kb insertion disrupted exon 8 of the second breed-variant. This insertion was associated with alternative splicing between a donor site 5 and acceptor site 3 to the normal exon 8 splice junction, with introduction of a new stop codon. The resultant transcript lacked most of the factor IX catalytic domain and 3 untranslated region.
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Blood DisordersITGA2BGlanzmann thrombasthenia11105947001000-96152000splicingGreat Pyreneesa 14-base insertion in exon 13 and defective splicing of intron 13
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Blood DisordersVWFVon Willebrand disease III10668811001058-96152000deletion, small (<=20)Scottish Terriera single base deletion in the codon for amino acid 85 of the prepro-vWF cDNA
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Blood DisordersITGA2BGlanzmann thrombasthenia11703027001000-96152001missenseScottish Deerhoundc.1100G>C; p.D367H
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Blood DisordersAP3B1Gray collie syndrome/cyclic neutropenia12897784000248-96152003insertion, small (<=20)Colliea single base pair insertion in exon 20 of AP3 beta gene (AP3B1)
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Blood DisordersVWFVon Willebrand disease II15133170001339-96152004missenseGerman Shorthair Pointer, German Wirehaired Pointerchr27:38924099A>G; c.4937A>G; p.Asn1646Ser; rs852456570
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Blood DisordersF7Hemophilia factor VII deficiency16961583000361-96152006missenseBeaglechr22:60578895; c.407G>A; p.Gly136Glu
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Blood DisordersF11Hemophilia factor XI deficiencynot in PubMed000363-96152006insertion, gross (>20)Kerry Blue Terriera short interspersed nucleotide element (SINE) insertion
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Blood DisordersRASGRP2Thrombopathia17656327001003-96152007insertion, small (<=20)Eskimo Spitzc.452-453insA
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Blood DisordersRASGRP2Thrombopathia17656327001003-96152007nonsense (stop-gain)Landseerc.982C>T; p.R328*
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Blood DisordersTUBB1Thrombocytopaenia18466252001001-96152008missenseKing Charles Spanielc.745G>A; p.D249N
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Blood DisordersRASGRP2Thrombopathia18922051001003-96152008deletion, small (<=20)Basset Hound
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Blood DisordersSPTBElliptocytosis19228356001318-96152009missensemixed breedp.T2110M
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Blood DisordersFERMT3Leukocyte adhesion deficiency, type III20126836001525-96152010insertion, small (<=20)German Shepherd Dog12-base pair insertion
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Blood DisordersP2RY12Bleeding disorder, P2RY12-related21554368001564-96152011deletion, small (<=20)Greater Swiss Mountaina 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12
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Blood DisordersF8Hemophilia A factor VIII deficiency21949058000437-96152011nonsense (stop-gain)German Shepherd DogchrX:123043081G>A; c.98G>A; p.W33*
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Blood DisordersF9Hemophilia B factor IX deficiency20303304000438-96152011missenseRhodesian RidgebackchrX:109530847G>A; c.731G>A; p.G244E
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Blood DisordersMYH9May-Hegglin anomaly21554370001608-96152011missensePugp.Q1841L
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Blood DisordersKLKB1Prekallikrein deficiency20736516000819-96152011missenseShih-Tzuchr16:44501415T>A; c.988T>A; p.F330I
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Blood DisordersVPS13BTrapped neutrophil syndrome21605373001428-96152011deletion, small (<=20)Border Collie
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Blood DisordersPFKMGlycogen storage disease VII22446493000421-96152012missenseWachtelhundc.550C>T; p.R184W
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Blood DisordersVWFVon Willebrand disease I23911791001057-96152013splicingDoberman Pinscherchr27:38951839G>A; c.7437G>A; p.Ser2479Ser
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Blood DisordersF8Hemophilia A factor VIII deficiency25040606000437-96152014missenseBoxerc.1412C>G; p.P471R
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Blood DisordersF8Hemophilia A factor VIII deficiency25040606000437-96152014missenseGerman Shepherd Dogc.1643G>A; p.C548Y
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Blood DisordersTUBB1Thrombocytopaenia25060661001001-96152014missenseNorfolk terrierc.5G>A; p.R2H
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Blood DisordersANO6Canine scott syndrome; Platelet receptor for factor X, deficiency of26414452001353-96152015splicingGerman Shepherd Dogchr27:8912219 G>A
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Blood DisordersVWFVon Willebrand disease II28696025001339-96152017missenseChinese Crested Dog, German Shorthair Pointer, German Wirehaired Pointerchr27:38887211T>G; c.1657T>G; p.Trp553Gly
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Blood DisordersF8Hemophilia A factor VIII deficiencyNot publishednoneNot publishedHavanese"Canine factor VIII gene of a Havanese dog, wherein the canine factor VIII gene comprises a SINE insert." (https://patents.google.com/patent/EP2548886A1/en)
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Cardiac DisordersPDK4Dilated cardiomyopathy22447147000162-96152012deletion, small (<=20)Doberman pinschersa 16-base pair deletion in the 5 donor splice site of intron 10 of the pyruvate dehydrogenase kinase 4 [PDK4] gene (Given the results of Meurs et al. (2012), it is evident that any DNA test based on this mutation will not be a good indicator of liability to this disorder in Dobermans.)
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Dermal DisordersCOL7A1Epidermolysis bullosa, dystrophic12874109000341-96152003missenseGolden Retrieverchr20:40538034G>A; c.5716G>A; p.G1906S; By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Baldeschi et al. (2003) showed that the molecular basis of this disorder in a family of Golden Retrievers is a missense mutation (5716G>A) in the COL7A1 gene, resulting in a G1906S amino-acid substitution.
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Dermal DisordersEDAAnhidrotic ectodermal dysplasia16151697000543-96152005splicingc.910-1G>A
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Dermal DisordersKRT10Hyperkeratosis, epidermolytic16029326001415-96152005splicingNorfolk terriera single base GT>TT change in the consensus donor splice site of intron 5
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Dermal DisordersTGM1Ichthyosis19438474000546-96152009insertion, gross (>20)Jack Russell Terriera LINE-1 insertion in the TGM1 gene
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Dermal DisordersADAMTSL2Musladin-Lueke syndrome20862248001509-96152010missenseBeaglechr9:49931561C>T; c.661C>T; p.R221C
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Dermal DisordersPSMB7Harlequin21256207001454-96152011missenseGreat Danec.146T>G; p.V6G
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Dermal DisordersPKP1Ectodermal dysplasia/skin fragility syndrome22384142001864-96152012splicingChesapeake Bay Retriever, Golden Retrieverchr7:1966531G>C; c.202+1G>C
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Dermal DisordersPNPLA1Ichthyosis, PNPLA1-related22246504001588-96152012indel, small (<=20)Golden Retrieverc.1445_1447delinsTACTACTA; p.N482Ifs*11
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Dermal DisordersFAM83GHyperkeratosis, palmoplantar24832243001327-96152014missenseIrish Terrier, KromfohrlÌ_nderchr5:41055619G>C; c.155G>C; p.R52P
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Dermal DisordersSLC27A4Ichthyosis, SLC27A4-related26506231001973-96152015splicingGreat Danechr9:8684G>A; c.1250G>A
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Dermal DisordersPLGLigneous membranitis26360520002020-96152015splicingScottish Terrierc.1256+2T>A
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Dermal DisordersKRT16Palmoplantar keratoderma, nonepidermolytic, focal 125521457002088-96152015complex rearrangementDogue de Bordeauxp.Glu392*
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Dermal DisordersCOL7A1Epidermolysis bullosa, dystrophic28493971000341-96152017nonsense (stop-gain)Central Asian Shepherdchr20:40532043; c.4579C>T; p.R1527*; Niskanen et al. (2017) reported a likely causal variant in Central Asian Shepherd dogs as a nonsense mutation in COL7A1, namely c.4579C>T, p.R1527*.
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Dermal DisordersNIPAL4Ichthyosis, NIPAL4-related28122049001980-96152017deletion, small (<=20)American Bulldogchr4:52737379delC
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Endocrine DisordersTPOHypothyroidism12564727000536-96152003nonsense (stop-gain)Rat Terrier, Toy Fox Terrierchr17:784624C>T; c.331C>T; p.Q111*; By cloning and sequencing a very likely candidate gene (based on knowledge that the disorder is due to deficiency of thryroid peroxidase), Fyfe et al. (2003) reported that the causative mutation in Toy Fox Terriers is a C to T transition that creates an early stop codon in the gene coding for thyroid peroxidase (c.331C>T; p. Arg111Ter). Pettigrew et al. (2007) discovered the same causal mutation in Rat Terriers.
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Endocrine DisordersTPOHypothyroidism23113744000536-96152012missenseTenterfield Terrierc.1777C>T; p.R593W; Tenterfield Terriers have a C to T missense mutation (c.1777C>T) predicting a tryptophan substitution for a highly conserved arginine residue (p.R593W)(Dodgson et al., 2012).
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Endocrine DisordersTPOHypothyroidism23223904000536-96152013regulatorySpanish water dogFyfe et al. (2013) identified a novel form of TPO mutation in two half-sib Spanish Water Dogs: "A single guanosine insertion was observed in the first exon of the affected-dog TPO cDNA at a site not previously thought to be within the coding sequence. The insertion allele segregated with the deduced disease allele in the SWD breed and was not observed in unrelated dogs of various breeds. Comparison of the insertion site (an 8-nt poly-G tract) with the orthologous sequences of other mammalian reference genomes revealed that the octa-G tract obliterated the intron 1 splice acceptor site and the exon 2 translation initiation codon found at that position in other species. An in-frame ATG in strong Kozak consensus context was observed in the normal dog sequence 12 codons 5' of the usual mammalian start site, suggesting that dogs have lost the noncoding exon 1 demonstrated in human and mouse. A survey of TPO sequences in other carnivore species indicates that the poly-G tract necessitating an alternative translation initiation site is a canid-specific feature."
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Endocrine DisordersTPOHypothyroidism26478542000536-96152015splicingFrench bull dogchr17:801598; c.2242 + 2T>C; Major et al. (2015) reported a likely causal mutation in the TPO gene in a French Bulldog as a "T>C transition in the +2 position of the intron 12 splice donor site (CFA17:801,598; TPO c.2242 + 2T>C)".
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Immunological DisordersIL2RGSevere combined immunodeficiency disease, X-linked7829104000899-96151994deletion, small (<=20)Basset Hounda four nucleotide deletion causing a frame shift and subsequent premature termination of the gene coding for the gamma chain of the IL-2 receptor
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Immunological DisordersIL2RGSevere combined immunodeficiency disease, X-linked8571541000899-96151995insertion, small (<=20)Cardigan Welsh Corgia single nucleotide insertion causing a frameshift
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Immunological DisordersC3C3 deficiency9510185000155-96151998deletion, small (<=20)Brittany Spaniela deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream
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Immunological DisordersPRKDCSevere combined immunodeficiency disease, autosomal11867233000220-96152002nonsense (stop-gain)Jack Russell Terrierc.10879G>T; p.E3627*
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Immunological DisordersRAG1Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive21293384001574-96152011nonsense (stop-gain)Frisian Water Dogchr18:31631772G>T; c.2893G>T; p.E965*
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Immunological DisordersMPOMyeloperoxidase deficiency27296514002028-96152016nonsense (stop-gain)Italian houndc.1987C>T; p.R663*
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Metabolic DisordersPKLRPyruvate kinase deficiency of erythrocyte7520391000844-96151994deletion, small (<=20)Basenjic.764A>G
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Metabolic DisordersG6PCGlycogen storage disease Ia9259982000418-96151997missenseMaltesec.450G>C; p.M121I
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Metabolic DisordersGUSBMucopolysaccharidosis VII9521879000667-96151998missenseGerman Shepherd Dogchr6:741429G>A; c.497G>A; p.R166H
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Metabolic DisordersPKLRPyruvate kinase deficiency of erythrocyte10490091000844-96151999insertion, small (<=20)West Highland White terrierHaemophilia B
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Metabolic DisordersCATHypocatalasia11137458001138-96152000missenseAmerican Foxhound, Beaglechr18:33397548G>A; c.979G>A; p.A327T
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Metabolic DisordersSGSHMucopolysaccharidosis IIIA10950929001309-96152000deletion, small (<=20)Dachshundc.737-739delCCA
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Metabolic DisordersSGSHMucopolysaccharidosis IIIA11829484001309-96152002insertion, small (<=20)New Zealand Huntaway dogc.708-709insC
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Metabolic DisordersAGLGlycogen storage disease IIIA17338148001577-96152007deletion, small (<=20)Curly-coated retrieverc.4223delA
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Metabolic DisordersPDP1Pyruvate dehydrogenase deficiency17095275001406-96152007nonsense (stop-gain)Clumber Spaniel, Sussex Spanielc.754C>T; p.Q252*
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Metabolic DisordersGUSBMucopolysaccharidosis VII22815736000667-96152012missenseBrazilian Terrierchr6:740428C>T; c.866C>T; p.P289L
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Metabolic DisordersPKLRPyruvate kinase deficiency of erythrocyte22805166000844-96152012nonsense (stop-gain)Labrador Retrieverc.799C>T; p.Q267*
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Metabolic DisordersPKLRPyruvate kinase deficiency of erythrocyte22805166000844-96152012missenseBeaglec.994G>A; p.G332S
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Metabolic DisordersPKLRPyruvate kinase deficiency of erythrocyte22805166000844-96152012missensePugc.848T>C; p.V283A
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Metabolic DisordersGAAGlycogen storage disease II23457621000419-96152013nonsense (stop-gain)Finnish Lapphund, Swedish Lapphundchr9 g1603730G>A; c.2237G>A; p.W746*
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Metabolic DisordersCUBNImerslund-Grasbeck syndrome; Intestinal cobalamin malabsorption due to CUBN mutation23613799001786-96152013deletion, small (<=20)Border Colliechr2:19974334delC; c.8392delC; p.Gln2798Argfs*3; Whole genome re-sequencing of one affected Border Collie revealed 17 non-synonymous variants in the critical interval. Two of these variants were perfectly associated with intestinal cobalamin malabsorption in Border Collies. Based on the known functions of the corresponding genes the CUBN:c.8392delC frameshift variant is most likely causative for intestinal cobalamin malabsorption in Border Collies. This variant causes a premature stop codon in the open reading frame of cubilin (p.Gln2798Argfs*3) and is predicted to represent a complete loss of function allele (Owczarek-Lipska et al. 2013). CUBN and AMN form a transmembrane protein complex termed "cubam", which is essential in the uptake of cobalamin from the intestinal lumen. A defect in one of these two proteins therefore leads to intestinal cobalamin malabsorption. Other independent mutations in either the CUBN or the AMN gene very likely are responsible for this phenotype in other dog breeds.
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Metabolic DisordersCUBNImerslund-Grasbeck syndrome; Intestinal cobalamin malabsorption due to CUBN mutation24164695001786-96152014deletion, small (<=20)Beaglechr2:19796293delC; c.786delC; p.Asp262Glufs*47; By comparing sequence of the two candidate genes (AMN and CUBN) from the CanFam 3.1 reference genome assembly with sequence of the same two genes from the 15x whole-genome sequencing (WGS) of an affected Beagle, Drögemüller et al. (2014) identified "a single-base-pair deletion at Chr2:19,796,293 compared with the CanFam 3.1 reference genome assembly . . . . The variant lies within exon 8 of the CUBN gene and represents a frameshift mutation leading to an early premature stop codon (c.786delC). The predicted protein from the mutant allele contains <10% of the amino acids from the wild-type CUBN (p.Asp262Glufs*47). Thus, the identified variant most likely represents a complete loss-of-function allele."
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Muscular DisordersDMDMuscular dystrophy, Duchenne type1577476001081-96151992splicingGolden Retrievera point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped
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Muscular DisordersCLCN1Myotonia10452529000698-96151999missenseMiniature Schnauzerchr16:6366383C>T; c.803C>T; p.T268M
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Muscular DisordersHACD1Myopathy, centronuclear15829503001374-96152005insertion, gross (>20)Labrador
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Muscular DisordersMSTNMuscular hypertrophy (double muscling)17530926000683-96152007deletion, small (<=20)Whippetchr37; c.939_940delTG; p.C313*; a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313
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Muscular DisordersCLCN1Myotonia17552451000698-96152007insertion, small (<=20)Australian Cattle Dogc.2665insA; p.Arg889fs)
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Muscular DisordersDNM1Exercise-Induced collapse18806795001466-96152008missenseChesapeake Bay Retriever, Curly-coated retriever, Labrador Retrieverchr9:55282762G>T; c.767G>T; p.R256L
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Muscular DisordersSOD1Degenerative myelopathy19188595000263-96152009missenseBoxer, Chesapeake Bay Retriever, German Shepherd Dog, Pembroke Welsh Corgi, Rhodesian Ridgebackchr31:26540342G>A; c.100G>A; p.E34K; rs853026434; The causative mutation is a G to A transition (c.118G>A; p.E40K) in exon 2 of SOD1. All affected dogs tested were homozygous mutant. However, some homozygous mutant dogs had no signs of degenerative myelopathy, which suggests incomplete penetrance or other causative loci (Awano et al., 2009). The mutation is hypothesized to lead to SOD1 aggregation, as cytoplasmic inclusions in affected dogs stain with anti-SOD1 antibodies (Awano et al., 2009).
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Muscular DisordersDMDMuscular dystrophy, Duchenne type20072625001081-96152010splicingCavalier King Charles Spaniela missense mutation in the 5 donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein
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Muscular DisordersMTM1Myotubular myopathy 120682747001508-96152010missenseLabrador Retrieverc.465C>A; p.N155K; Beggs et al. (2010) sequenced all 15 exons of the comparative candidate MTM1 gene in two affected male Labrador Retrievers, one obligate female carrier Labrador Retriever, and several non-affected dogs from other breeds. A potentially causative missense mutation (c.465C>A; p.N155K) in exon 7 was confirmed by further sequencing ("seven affected males, representing each of the affected families, were found to be hemizygous for this change, whereas three obligate female carriers were all heterozygous") and genotyping (the mutation "was not seen in any of 237 unrelated and unaffected Labrador Retrievers from throughout North America, Europe, and Australia, nor was it detected in any of 59 additional control dogs from 25 other breeds").
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Muscular DisordersSOD1Degenerative myelopathy21628865000263-96152011missenseBernese Mountain dogc.52A>T; p.T18S; A second causal mutation (c.52A>T; p.Thr18Ser) in the same gene, in a Bernese Mountain Dog, was reported by Wininger et al. (2011).
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Muscular DisordersDMDMuscular dystrophy, Duchenne type20714321001081-96152011insertion, gross (>20)Pembroke Welsh Corgia long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon
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Muscular DisordersBIN1Myopathy, Great Dane23754947001660-96152013splicingGreat DaneIVS10-2A>G
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Muscular DisordersDMDMuscular dystrophy, Duchenne type26401335001081-96152015deletion, small (<=20)Norfolk terrierchrX:27606021delG; c.3084delG; p.Gly1029AspfsX30; Jenkins and Forman (2015) reported a 1bp deletion in exon 22 (chr CFAX: 27,606,021; CanFam3); c.3084delG; p.Gly1029AspfsX30 [GenBank:NM001003343] in a Norfolk Terrier.
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Muscular DisordersCOL6A1Muscular dystrophy, Ullrich type26438297001967-96152015nonsense (stop-gain)Landseerc.289C>T; p.Q97*
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Muscular DisordersMTM1Myotubular myopathy 125664165001508-96152015missenseRottweilerc.1151A>C; p.Q384P; Shelton et al. (2015) sequenced the same gene in a group of Australian Rottweilers segregating in a similar (X-linked) manner for very similar clinical signs, and discovered a different causal missense mutation (c.1151A>C; p.Q384P) in exon 11. Subsequent genotyping of this mutation in UK Rottweilers and other (unrelated) Australian Rottweliers showed no trace of the mutation, suggesting that this mutation is fairly new.
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Muscular DisordersDMDMuscular dystrophy, Duchenne type28028563001081-96152016deletion, small (<=20)Cavalier King Charles Spanielc.6051_6057delTCTCAAT; Nghiem et al. (2016) reported "a 7 base pair deletion in DMD exon 42 (c.6051-6057delTCTCAAT mRNA), predicting a frameshift in gene transcription and truncation of dystrophin protein translation" as the likely causal variant in a "dystrophin-deficient Cavalier King Charles Spaniel".
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Muscular DisordersNEBNemaline myopathy, NEB-related27215641002137-96152016nonsense (stop-gain)American Bulldogp.S8042*
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Neurological DisordersPLP1Tremor, X-linked1723945000770-96151990missenseSpringer SpanielchrX:77200833A>C; c.110A>C; p.H37P
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Neurological DisordersCLN5Neuronal ceroid lipofuscinosis 516033706001482-96152005nonsense (stop-gain)Australian Cattle Dog, Border Colliechr22:305746C>T; c.619C>T; p.Q207*
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Neurological DisordersCLN8Neuronal ceroid lipofuscinosis 815629147001506-96152005missenseEnglish Setterchr37:30874779T>C; c.491T>C; p.L164P; Sequencing of the canine CLN8 gene in affected English Setters revealed the causative mutation to be "a T-to-C transition in the CLN8 gene that predicts a p.L164P missense mutation".
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Neurological DisordersCTSDNeuronal ceroid lipofuscinosis, 1016386934001505-96152006missenseAmerican Bulldogchr18:46013354G>A; c.597G>A; p.M199I
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Neurological DisordersTPP1Neuronal ceroid lipofuscinosis, 216621647001472-96152006deletion, small (<=20)Dachshundc.325delC; p.A108Pfs*6
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Neurological DisordersL2HGDHL-2-hydroxyglutaricacidemia17475916001371-96152007complex rearrangementStaffordshire Bull Terrierc[1297T>C; 1299C>T]; p[Leu433Pro; His434Tyr]; Penderis et al. (2007) sequenced "all 10 canine L2HGDH exons (with flanking intron regions) from the [Staffordshire bull terrier] affected dogs and two carrier dogs" and identified a causal mutation as "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr])".
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Neurological DisordersATF2Neonatal encephalopathy with seizures18074159001471-96152008missenseStandard Poodlechr36:19078954T>G; c.152T>G; p.M51R