A | B | C | D | E | F | G | H | I | J | K | |
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1 | TYPE | GENE | Disease | PubMed | OMIA | Year Published | Type of Variant | Breed Discovered in (from OMIA) | Description of variant (from OMIA) | ||
2 | Blood Disorders | F9 | Hemophilia B factor IX deficiency | 2481310 | 000438-9615 | 1989 | missense | Cairn Terrier | c.1477G>A; p.G379E | ||
3 | Blood Disorders | PFKM | Glycogen storage disease VII | 8702726 | 000421-9615 | 1996 | nonsense (stop-gain) | American cocker spaniel, English Springer Spaniel, Whippet | c.2228G>A; p.W???* | ||
4 | Blood Disorders | F9 | Hemophilia B factor IX deficiency | 8896410 | 000438-9615 | 1996 | deletion, small (<=20) | Lhasa Apso | a deletion including nucleotides 772-776 and a C-->T transition at nucleotide 777 | ||
5 | Blood Disorders | VWF | Von Willebrand disease III | not in PubMed | 001058-9615 | 1998 | deletion, small (<=20) | Shetland Sheepdog | Lehner 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.] | ||
6 | Blood Disorders | VWF | Von Willebrand disease III | 9716162 | 001058-9615 | 1998 | splicing | Dutch Kooiker | a G>A base substition at the first position of the donor splice site sequence of intron 16 | ||
7 | Blood Disorders | F9 | Hemophilia B factor IX deficiency | 10544912 | 000438-9615 | 1999 | deletion, gross (>20) | Airedale Terrier | a deletion spanning the entire 5 region of the factor IX gene extending to exon 6 | ||
8 | Blood Disorders | F9 | Hemophilia B factor IX deficiency | 10544912 | 000438-9615 | 1999 | insertion, gross (>20) | Airedale Terrier | An 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. | ||
9 | Blood Disorders | ITGA2B | Glanzmann thrombasthenia | 11105947 | 001000-9615 | 2000 | splicing | Great Pyrenees | a 14-base insertion in exon 13 and defective splicing of intron 13 | ||
10 | Blood Disorders | VWF | Von Willebrand disease III | 10668811 | 001058-9615 | 2000 | deletion, small (<=20) | Scottish Terrier | a single base deletion in the codon for amino acid 85 of the prepro-vWF cDNA | ||
11 | Blood Disorders | ITGA2B | Glanzmann thrombasthenia | 11703027 | 001000-9615 | 2001 | missense | Scottish Deerhound | c.1100G>C; p.D367H | ||
12 | Blood Disorders | AP3B1 | Gray collie syndrome/cyclic neutropenia | 12897784 | 000248-9615 | 2003 | insertion, small (<=20) | Collie | a single base pair insertion in exon 20 of AP3 beta gene (AP3B1) | ||
13 | Blood Disorders | VWF | Von Willebrand disease II | 15133170 | 001339-9615 | 2004 | missense | German Shorthair Pointer, German Wirehaired Pointer | chr27:38924099A>G; c.4937A>G; p.Asn1646Ser; rs852456570 | ||
14 | Blood Disorders | F7 | Hemophilia factor VII deficiency | 16961583 | 000361-9615 | 2006 | missense | Beagle | chr22:60578895; c.407G>A; p.Gly136Glu | ||
15 | Blood Disorders | F11 | Hemophilia factor XI deficiency | not in PubMed | 000363-9615 | 2006 | insertion, gross (>20) | Kerry Blue Terrier | a short interspersed nucleotide element (SINE) insertion | ||
16 | Blood Disorders | RASGRP2 | Thrombopathia | 17656327 | 001003-9615 | 2007 | insertion, small (<=20) | Eskimo Spitz | c.452-453insA | ||
17 | Blood Disorders | RASGRP2 | Thrombopathia | 17656327 | 001003-9615 | 2007 | nonsense (stop-gain) | Landseer | c.982C>T; p.R328* | ||
18 | Blood Disorders | TUBB1 | Thrombocytopaenia | 18466252 | 001001-9615 | 2008 | missense | King Charles Spaniel | c.745G>A; p.D249N | ||
19 | Blood Disorders | RASGRP2 | Thrombopathia | 18922051 | 001003-9615 | 2008 | deletion, small (<=20) | Basset Hound | |||
20 | Blood Disorders | SPTB | Elliptocytosis | 19228356 | 001318-9615 | 2009 | missense | mixed breed | p.T2110M | ||
21 | Blood Disorders | FERMT3 | Leukocyte adhesion deficiency, type III | 20126836 | 001525-9615 | 2010 | insertion, small (<=20) | German Shepherd Dog | 12-base pair insertion | ||
22 | Blood Disorders | P2RY12 | Bleeding disorder, P2RY12-related | 21554368 | 001564-9615 | 2011 | deletion, small (<=20) | Greater Swiss Mountain | a 3 base-pair deletion predicted to result in elimination of a serine from the extracellular domain was identified in the gene encoding P2RY12 | ||
23 | Blood Disorders | F8 | Hemophilia A factor VIII deficiency | 21949058 | 000437-9615 | 2011 | nonsense (stop-gain) | German Shepherd Dog | chrX:123043081G>A; c.98G>A; p.W33* | ||
24 | Blood Disorders | F9 | Hemophilia B factor IX deficiency | 20303304 | 000438-9615 | 2011 | missense | Rhodesian Ridgeback | chrX:109530847G>A; c.731G>A; p.G244E | ||
25 | Blood Disorders | MYH9 | May-Hegglin anomaly | 21554370 | 001608-9615 | 2011 | missense | Pug | p.Q1841L | ||
26 | Blood Disorders | KLKB1 | Prekallikrein deficiency | 20736516 | 000819-9615 | 2011 | missense | Shih-Tzu | chr16:44501415T>A; c.988T>A; p.F330I | ||
27 | Blood Disorders | VPS13B | Trapped neutrophil syndrome | 21605373 | 001428-9615 | 2011 | deletion, small (<=20) | Border Collie | |||
28 | Blood Disorders | PFKM | Glycogen storage disease VII | 22446493 | 000421-9615 | 2012 | missense | Wachtelhund | c.550C>T; p.R184W | ||
29 | Blood Disorders | VWF | Von Willebrand disease I | 23911791 | 001057-9615 | 2013 | splicing | Doberman Pinscher | chr27:38951839G>A; c.7437G>A; p.Ser2479Ser | ||
30 | Blood Disorders | F8 | Hemophilia A factor VIII deficiency | 25040606 | 000437-9615 | 2014 | missense | Boxer | c.1412C>G; p.P471R | ||
31 | Blood Disorders | F8 | Hemophilia A factor VIII deficiency | 25040606 | 000437-9615 | 2014 | missense | German Shepherd Dog | c.1643G>A; p.C548Y | ||
32 | Blood Disorders | TUBB1 | Thrombocytopaenia | 25060661 | 001001-9615 | 2014 | missense | Norfolk terrier | c.5G>A; p.R2H | ||
33 | Blood Disorders | ANO6 | Canine scott syndrome; Platelet receptor for factor X, deficiency of | 26414452 | 001353-9615 | 2015 | splicing | German Shepherd Dog | chr27:8912219 G>A | ||
34 | Blood Disorders | VWF | Von Willebrand disease II | 28696025 | 001339-9615 | 2017 | missense | Chinese Crested Dog, German Shorthair Pointer, German Wirehaired Pointer | chr27:38887211T>G; c.1657T>G; p.Trp553Gly | ||
35 | Blood Disorders | F8 | Hemophilia A factor VIII deficiency | Not published | none | Not published | Havanese | "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) | |||
36 | Cardiac Disorders | PDK4 | Dilated cardiomyopathy | 22447147 | 000162-9615 | 2012 | deletion, small (<=20) | Doberman pinschers | a 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.) | ||
37 | Dermal Disorders | COL7A1 | Epidermolysis bullosa, dystrophic | 12874109 | 000341-9615 | 2003 | missense | Golden Retriever | chr20:40538034G>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. | ||
38 | Dermal Disorders | EDA | Anhidrotic ectodermal dysplasia | 16151697 | 000543-9615 | 2005 | splicing | c.910-1G>A | |||
39 | Dermal Disorders | KRT10 | Hyperkeratosis, epidermolytic | 16029326 | 001415-9615 | 2005 | splicing | Norfolk terrier | a single base GT>TT change in the consensus donor splice site of intron 5 | ||
40 | Dermal Disorders | TGM1 | Ichthyosis | 19438474 | 000546-9615 | 2009 | insertion, gross (>20) | Jack Russell Terrier | a LINE-1 insertion in the TGM1 gene | ||
41 | Dermal Disorders | ADAMTSL2 | Musladin-Lueke syndrome | 20862248 | 001509-9615 | 2010 | missense | Beagle | chr9:49931561C>T; c.661C>T; p.R221C | ||
42 | Dermal Disorders | PSMB7 | Harlequin | 21256207 | 001454-9615 | 2011 | missense | Great Dane | c.146T>G; p.V6G | ||
43 | Dermal Disorders | PKP1 | Ectodermal dysplasia/skin fragility syndrome | 22384142 | 001864-9615 | 2012 | splicing | Chesapeake Bay Retriever, Golden Retriever | chr7:1966531G>C; c.202+1G>C | ||
44 | Dermal Disorders | PNPLA1 | Ichthyosis, PNPLA1-related | 22246504 | 001588-9615 | 2012 | indel, small (<=20) | Golden Retriever | c.1445_1447delinsTACTACTA; p.N482Ifs*11 | ||
45 | Dermal Disorders | FAM83G | Hyperkeratosis, palmoplantar | 24832243 | 001327-9615 | 2014 | missense | Irish Terrier, KromfohrlÌ_nder | chr5:41055619G>C; c.155G>C; p.R52P | ||
46 | Dermal Disorders | SLC27A4 | Ichthyosis, SLC27A4-related | 26506231 | 001973-9615 | 2015 | splicing | Great Dane | chr9:8684G>A; c.1250G>A | ||
47 | Dermal Disorders | PLG | Ligneous membranitis | 26360520 | 002020-9615 | 2015 | splicing | Scottish Terrier | c.1256+2T>A | ||
48 | Dermal Disorders | KRT16 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | 25521457 | 002088-9615 | 2015 | complex rearrangement | Dogue de Bordeaux | p.Glu392* | ||
49 | Dermal Disorders | COL7A1 | Epidermolysis bullosa, dystrophic | 28493971 | 000341-9615 | 2017 | nonsense (stop-gain) | Central Asian Shepherd | chr20:40532043; 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*. | ||
50 | Dermal Disorders | NIPAL4 | Ichthyosis, NIPAL4-related | 28122049 | 001980-9615 | 2017 | deletion, small (<=20) | American Bulldog | chr4:52737379delC | ||
51 | Endocrine Disorders | TPO | Hypothyroidism | 12564727 | 000536-9615 | 2003 | nonsense (stop-gain) | Rat Terrier, Toy Fox Terrier | chr17:784624C>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. | ||
52 | Endocrine Disorders | TPO | Hypothyroidism | 23113744 | 000536-9615 | 2012 | missense | Tenterfield Terrier | c.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). | ||
53 | Endocrine Disorders | TPO | Hypothyroidism | 23223904 | 000536-9615 | 2013 | regulatory | Spanish water dog | Fyfe 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." | ||
54 | Endocrine Disorders | TPO | Hypothyroidism | 26478542 | 000536-9615 | 2015 | splicing | French bull dog | chr17:801598; 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)". | ||
55 | Immunological Disorders | IL2RG | Severe combined immunodeficiency disease, X-linked | 7829104 | 000899-9615 | 1994 | deletion, small (<=20) | Basset Hound | a four nucleotide deletion causing a frame shift and subsequent premature termination of the gene coding for the gamma chain of the IL-2 receptor | ||
56 | Immunological Disorders | IL2RG | Severe combined immunodeficiency disease, X-linked | 8571541 | 000899-9615 | 1995 | insertion, small (<=20) | Cardigan Welsh Corgi | a single nucleotide insertion causing a frameshift | ||
57 | Immunological Disorders | C3 | C3 deficiency | 9510185 | 000155-9615 | 1998 | deletion, small (<=20) | Brittany Spaniel | a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream | ||
58 | Immunological Disorders | PRKDC | Severe combined immunodeficiency disease, autosomal | 11867233 | 000220-9615 | 2002 | nonsense (stop-gain) | Jack Russell Terrier | c.10879G>T; p.E3627* | ||
59 | Immunological Disorders | RAG1 | Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive | 21293384 | 001574-9615 | 2011 | nonsense (stop-gain) | Frisian Water Dog | chr18:31631772G>T; c.2893G>T; p.E965* | ||
60 | Immunological Disorders | MPO | Myeloperoxidase deficiency | 27296514 | 002028-9615 | 2016 | nonsense (stop-gain) | Italian hound | c.1987C>T; p.R663* | ||
61 | Metabolic Disorders | PKLR | Pyruvate kinase deficiency of erythrocyte | 7520391 | 000844-9615 | 1994 | deletion, small (<=20) | Basenji | c.764A>G | ||
62 | Metabolic Disorders | G6PC | Glycogen storage disease Ia | 9259982 | 000418-9615 | 1997 | missense | Maltese | c.450G>C; p.M121I | ||
63 | Metabolic Disorders | GUSB | Mucopolysaccharidosis VII | 9521879 | 000667-9615 | 1998 | missense | German Shepherd Dog | chr6:741429G>A; c.497G>A; p.R166H | ||
64 | Metabolic Disorders | PKLR | Pyruvate kinase deficiency of erythrocyte | 10490091 | 000844-9615 | 1999 | insertion, small (<=20) | West Highland White terrier | Haemophilia B | ||
65 | Metabolic Disorders | CAT | Hypocatalasia | 11137458 | 001138-9615 | 2000 | missense | American Foxhound, Beagle | chr18:33397548G>A; c.979G>A; p.A327T | ||
66 | Metabolic Disorders | SGSH | Mucopolysaccharidosis IIIA | 10950929 | 001309-9615 | 2000 | deletion, small (<=20) | Dachshund | c.737-739delCCA | ||
67 | Metabolic Disorders | SGSH | Mucopolysaccharidosis IIIA | 11829484 | 001309-9615 | 2002 | insertion, small (<=20) | New Zealand Huntaway dog | c.708-709insC | ||
68 | Metabolic Disorders | AGL | Glycogen storage disease IIIA | 17338148 | 001577-9615 | 2007 | deletion, small (<=20) | Curly-coated retriever | c.4223delA | ||
69 | Metabolic Disorders | PDP1 | Pyruvate dehydrogenase deficiency | 17095275 | 001406-9615 | 2007 | nonsense (stop-gain) | Clumber Spaniel, Sussex Spaniel | c.754C>T; p.Q252* | ||
70 | Metabolic Disorders | GUSB | Mucopolysaccharidosis VII | 22815736 | 000667-9615 | 2012 | missense | Brazilian Terrier | chr6:740428C>T; c.866C>T; p.P289L | ||
71 | Metabolic Disorders | PKLR | Pyruvate kinase deficiency of erythrocyte | 22805166 | 000844-9615 | 2012 | nonsense (stop-gain) | Labrador Retriever | c.799C>T; p.Q267* | ||
72 | Metabolic Disorders | PKLR | Pyruvate kinase deficiency of erythrocyte | 22805166 | 000844-9615 | 2012 | missense | Beagle | c.994G>A; p.G332S | ||
73 | Metabolic Disorders | PKLR | Pyruvate kinase deficiency of erythrocyte | 22805166 | 000844-9615 | 2012 | missense | Pug | c.848T>C; p.V283A | ||
74 | Metabolic Disorders | GAA | Glycogen storage disease II | 23457621 | 000419-9615 | 2013 | nonsense (stop-gain) | Finnish Lapphund, Swedish Lapphund | chr9 g1603730G>A; c.2237G>A; p.W746* | ||
75 | Metabolic Disorders | CUBN | Imerslund-Grasbeck syndrome; Intestinal cobalamin malabsorption due to CUBN mutation | 23613799 | 001786-9615 | 2013 | deletion, small (<=20) | Border Collie | chr2:19974334delC; 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. | ||
76 | Metabolic Disorders | CUBN | Imerslund-Grasbeck syndrome; Intestinal cobalamin malabsorption due to CUBN mutation | 24164695 | 001786-9615 | 2014 | deletion, small (<=20) | Beagle | chr2:19796293delC; 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." | ||
77 | Muscular Disorders | DMD | Muscular dystrophy, Duchenne type | 1577476 | 001081-9615 | 1992 | splicing | Golden Retriever | a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped | ||
78 | Muscular Disorders | CLCN1 | Myotonia | 10452529 | 000698-9615 | 1999 | missense | Miniature Schnauzer | chr16:6366383C>T; c.803C>T; p.T268M | ||
79 | Muscular Disorders | HACD1 | Myopathy, centronuclear | 15829503 | 001374-9615 | 2005 | insertion, gross (>20) | Labrador | |||
80 | Muscular Disorders | MSTN | Muscular hypertrophy (double muscling) | 17530926 | 000683-9615 | 2007 | deletion, small (<=20) | Whippet | chr37; 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 | ||
81 | Muscular Disorders | CLCN1 | Myotonia | 17552451 | 000698-9615 | 2007 | insertion, small (<=20) | Australian Cattle Dog | c.2665insA; p.Arg889fs) | ||
82 | Muscular Disorders | DNM1 | Exercise-Induced collapse | 18806795 | 001466-9615 | 2008 | missense | Chesapeake Bay Retriever, Curly-coated retriever, Labrador Retriever | chr9:55282762G>T; c.767G>T; p.R256L | ||
83 | Muscular Disorders | SOD1 | Degenerative myelopathy | 19188595 | 000263-9615 | 2009 | missense | Boxer, Chesapeake Bay Retriever, German Shepherd Dog, Pembroke Welsh Corgi, Rhodesian Ridgeback | chr31:26540342G>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). | ||
84 | Muscular Disorders | DMD | Muscular dystrophy, Duchenne type | 20072625 | 001081-9615 | 2010 | splicing | Cavalier King Charles Spaniel | a 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 | ||
85 | Muscular Disorders | MTM1 | Myotubular myopathy 1 | 20682747 | 001508-9615 | 2010 | missense | Labrador Retriever | c.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"). | ||
86 | Muscular Disorders | SOD1 | Degenerative myelopathy | 21628865 | 000263-9615 | 2011 | missense | Bernese Mountain dog | c.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). | ||
87 | Muscular Disorders | DMD | Muscular dystrophy, Duchenne type | 20714321 | 001081-9615 | 2011 | insertion, gross (>20) | Pembroke Welsh Corgi | a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon | ||
88 | Muscular Disorders | BIN1 | Myopathy, Great Dane | 23754947 | 001660-9615 | 2013 | splicing | Great Dane | IVS10-2A>G | ||
89 | Muscular Disorders | DMD | Muscular dystrophy, Duchenne type | 26401335 | 001081-9615 | 2015 | deletion, small (<=20) | Norfolk terrier | chrX: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. | ||
90 | Muscular Disorders | COL6A1 | Muscular dystrophy, Ullrich type | 26438297 | 001967-9615 | 2015 | nonsense (stop-gain) | Landseer | c.289C>T; p.Q97* | ||
91 | Muscular Disorders | MTM1 | Myotubular myopathy 1 | 25664165 | 001508-9615 | 2015 | missense | Rottweiler | c.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. | ||
92 | Muscular Disorders | DMD | Muscular dystrophy, Duchenne type | 28028563 | 001081-9615 | 2016 | deletion, small (<=20) | Cavalier King Charles Spaniel | c.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". | ||
93 | Muscular Disorders | NEB | Nemaline myopathy, NEB-related | 27215641 | 002137-9615 | 2016 | nonsense (stop-gain) | American Bulldog | p.S8042* | ||
94 | Neurological Disorders | PLP1 | Tremor, X-linked | 1723945 | 000770-9615 | 1990 | missense | Springer Spaniel | chrX:77200833A>C; c.110A>C; p.H37P | ||
95 | Neurological Disorders | CLN5 | Neuronal ceroid lipofuscinosis 5 | 16033706 | 001482-9615 | 2005 | nonsense (stop-gain) | Australian Cattle Dog, Border Collie | chr22:305746C>T; c.619C>T; p.Q207* | ||
96 | Neurological Disorders | CLN8 | Neuronal ceroid lipofuscinosis 8 | 15629147 | 001506-9615 | 2005 | missense | English Setter | chr37:30874779T>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". | ||
97 | Neurological Disorders | CTSD | Neuronal ceroid lipofuscinosis, 10 | 16386934 | 001505-9615 | 2006 | missense | American Bulldog | chr18:46013354G>A; c.597G>A; p.M199I | ||
98 | Neurological Disorders | TPP1 | Neuronal ceroid lipofuscinosis, 2 | 16621647 | 001472-9615 | 2006 | deletion, small (<=20) | Dachshund | c.325delC; p.A108Pfs*6 | ||
99 | Neurological Disorders | L2HGDH | L-2-hydroxyglutaricacidemia | 17475916 | 001371-9615 | 2007 | complex rearrangement | Staffordshire Bull Terrier | c[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])". | ||
100 | Neurological Disorders | ATF2 | Neonatal encephalopathy with seizures | 18074159 | 001471-9615 | 2008 | missense | Standard Poodle | chr36:19078954T>G; c.152T>G; p.M51R |