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Chondrodystrophy results in predictable and progressive biochemical and structural changes to the intervertebral disc, resulting in early onset degeneration and dystrophic mineralization of the disc. Accelerated degeneration and mineralization of the intervertebral disc are common in multiple dog breeds and can result in compromised function, herniation, pain, and a variety of neurological sequelae. A mutation responsible for chondrodystrophy in dogs has been identified as an aberrant fibroblast growth factor 4 ( FGF4) retrogene insertion on chromosome 12 (CFA12) and is associated with short stature of the Nova Scotia Duck Tolling Retriever. Segregation of the CFA12 FGF4 retrogene in this dog breed provides an opportunity to examine the effect of retrogene presence on radiographic and histologic appearance of chondrodystrophic disc degeneration within a single breed. Here we found that in the intervertebral discs isolated from 2 dogs with the CFA12 FGF4 genotype, the nucleus pulposus was largely replaced by cartilaginous tissue, and physaliferous notochordal cells were rarely if ever identified. These findings are in contrast to the normal histologic findings in 2 breed-matched dogs lacking the mutation. The findings are consistent with premature chondroid degeneration of the intervertebral disc and suggest that the presence of the CFA12 FGF4 retrogene is sufficient to cause the chondrodystrophic phenotype.

Autoimmune diseases are of considerable importance in dog breeding. An increased risk of diseases with genetic predisposition is present especially in breeds with a limited genetic diversity. Strict breeding regulations and a high degree of self responsibility of the breeders are essential to prevent these diseases. There are only a few DNA tests available for detecting carriers of genes predisposing for autoimmune diseases. In this review, we describe the special situation in the Nova Scotia Duck Tolling Retriever, who has a special predisposition for Systemic Lupus Erythematosus (SLE) and for Immune-mediated Rheumatoid Disease (IMRD), as well as for Steroid-Responsive Meningitis Arteritis (SRMA) and Juvenile Addison's Disease (JADD). In addition a short overview on the pathogenesis of autoimmune disease is presented.Autoimmunkrankheiten sind in der Hundezucht von erheblicher bzw. zunehmender Bedeutung. Speziell Hunderassen mit relativ schmaler Zuchtbasis und damit verbundener limitierter genetischer Diversität sind dafür prädisponiert. Durch verantwortungsvolle Züchtung unter Ausschluss von Tieren mit besonderer Prädisposition wird versucht, die Verbreitung von Autoimmunkrankheiten bei Rassehunden unter Kontrolle zu halten. Es werden zur Zeit bereits einzelne DNA-Tests angeboten, welche es ermöglichen, Genträger zu identifizieren. In der vorliegenden Übersichtsarbeit wird die besondere Prädisposition des Nova Scotia Duck Tolling Retrievers für den Systemischen Lupus Erythematosus (SLE) und die Immunbedingte Rheumatische Krankheit (IMRD), die Steroid-Responsive Meningitis Arteritis (SRMA) und die Juvenile Addison’s Disease (JADD) beschrieben. Zuvor wird die Pathogenese von Autoimmunkrankheiten dargestellt bzw. rekapituliert.Les maladies auto-immunes ont une signification de plus en plus importante et croissante dans l’élevage de chiens. Les races spéciales avec une base d’élevage étroite et une diversité génétique associée limitée sont prédisposées. Un élevage responsable, visant à exclure des animaux particulièrement prédisposés, permet de contrôler la recrudescence des maladies auto-immunes chez les chiens de race. Actuellement, des tests ADN individuels sont proposés, permettant d’identifier les porteurs de gènes. Cette revue systématique décrit la prédisposition particulière du Retriever de la Nouvelle-Écosse pour le lupus érythémateux disséminé et le rhumatisme à médiation immunitaire, la méningite-artérite sensible aux stéroïdes et le syndrome juvénile d’Addison. Mais avant cela, la pathogenèse des maaladies auto-immunes est présentée resp. récapitulée.Le malattie autoimmuni nell’allevamento dei cani sono di notevole e crescente importanza. Certe razze di cani con una base riproduttiva ristretta e una limitata diversità genetica sono particolarmente predisposte. Tramite un allevamento responsabile si punta ad un controllo della diffusione di malattie autoimmuni nei cani di razza, escludendo gli animali con una particolare predisposizione. Attualmente sono disponibili test del DNA che permettono di identificare i portatori dei geni. In questa recensione si descrive la particolare predisposizione dei Nova Scotia Duck Tolling Retriever per il Lupus eritematoso sistemico (LES), le malattie reumatiche immuno-mediate (IMRD), la meningite arterite sensibile agli steroidi (SRMA) e la malattia giovanile di Addison (JADD). Innanzitutto verrà presentata e descritta la patogenesi delle malattie autoimmuni.

Data collected in animal cancer registries comprise extensive and valuable information, even more so when evaluated in context with precise population data. The authors evaluated 11 740 canine skin tumors collected in the Swiss Canine Cancer Registry from 2008–2013, considering data on breed, sex, age, and anatomic locations. Their incidence rate (IR) per 100 000 dogs/year in the Swiss dog population was calculated based on data from the official and mandatory Swiss dog registration database ANIS. The most common tumor types were mast cell tumors (16.35%; IR, 60.3), lipomas (12.47%; IR, 46.0), hair follicle tumors (12.34%; IR, 45.5), histiocytomas (12.10%; IR, 44.6), soft tissue sarcomas (10.86%; IR, 40.1), and melanocytic tumors (8.63%; IR, 31.8) with >1000 tumors per type. The average IR of all tumor types across the 227 registered breeds was 372.2. The highest tumor incidence was found in the Giant Schnauzer (IR, 1616.3), the Standard Schnauzer (IR, 1545.4), the Magyar Vizsla (IR, 1534.6), the Rhodesian Ridgeback (IR, 1445.0), the Nova Scotia Duck Tolling Retriever (IR, 1351.7), and the Boxer (IR, 1350.0). Mixed-breed dogs (IR, 979.4) had an increased IR compared to the average of all breeds. Previously reported breed predispositions for most tumor types were confirmed. Nevertheless, the data also showed an increased IR for mast cell tumors and melanocytic tumors in the Nova Scotia Duck Tolling Retriever and for histiocytomas in the Flat Coated Retriever. The results from this study can be taken into consideration when selecting purebred dogs for breeding to improve a breed’s health.

Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin pigment intensity that is not explained by known genetic variants. A genome-wide association study comparing light red to dark red in the NSDTR identified a significantly associated region on canine chromosome 15 (CFA 15:23 Mb&ndash, 38 Mb). Coverage analysis of whole genome sequence data from eight dogs identified a 6 kb copy number variant (CNV) 152 kb upstream of KITLG. Genotyping with digital droplet PCR (ddPCR) confirmed a significant association between an increased copy number with the dark-red coat color in NSDTR (p = 6.1 &times, 10&minus, 7). The copy number of the CNV was also significantly associated with coat color variation in both eumelanin and pheomelanin-based Poodles (p = 1.5 &times, 8, 4.0 &times, 9) and across other breeds. Moreover, the copy number correlated with pigment intensity along the hair shaft in both pheomelanin and eumelanin coats. KITLG plays an important role in melanogenesis, and variants upstream of KITLG have been associated with coat color variation in mice as well as hair color in humans consistent with its role in the domestic dog.

Immunoglobulin A (IgA) serves as the basis of the secretory immune system by protecting the lining of mucosal sites from pathogens. In both humans and dogs, IgA deficiency (IgAD) is associated with recurrent infections of mucosal sites and immune-mediated diseases. Low concentrations of serum IgA have previously been reported to occur in a number of dog breeds but no generally accepted cut-off value has been established for canine IgAD. The current study represents the largest screening to date of IgA in dogs in terms of both number of dogs (n=1267) and number of breeds studied (n=22). Serum IgA concentrations were quantified by using capture ELISA and were found to vary widely between breeds. We also found IgA to be positively correlated with age (p

This paper describes a small intracranial aneurysm incidentally found in a 24-month-old Nova Scotia Duck Tolling Retriever evaluated for a recent history of lethargy, fever, and cervical pain. The clinicopathological analysis revealed leukocytosis, and increased haptoglobin and C-reactive protein consistent with severe flogistic process. Nonenhanced computed tomography of the brain and cervical spine showed a diffuse encephalopathy and moderate cervical syringohydromyelia. Computed tomography angiography series of the brain showed a small saccular dilation at the joining point of the two rostral cerebral arteries consistent with a small aneurysm. Cerebrospinal fluid examination led to the final diagnosis of aseptic meningitis. The dog was discharge with a long-term corticosteroid therapy for the meningitis. At two-month follow-up evaluation, the cerebrospinal fluid examination was normal and the computed tomography of the brain showed no abnormalities except for the stable aneurysm. To our knowledge, this is the first description of a spontaneous cerebral aneurysm in dogs and serves to broaden the spectrum of cerebrovascular diseases in this species.

Progressive rod-cone degeneration (PRCD) is a late onset autosomal photoreceptor degeneration found in canines. PRCD in canines is homologous to one form of retinitis pigmentosa (RP) found in humans and displays phenotypic similarity as well as having the identical causative mutation. The PRCD gene was mapped to the centromeric region of canine chromosome 9 (CFA9). We report here a population study of 699 dogs of the following breeds and the following frequencies of the disease-causing mutation: American Cocker Spaniel (0.09), English Cocker Spaniel (0.34), English Springer Spaniel (0.00), Welsh Springer Spaniel (0.00), Flat Coated Retriever (0.00), Golden Retriever (0.00), Chesapeake Bay Retriever (0.14), Nova Scotia Duck Tolling Retriever (0.44), Lab - rador Retriever (0.07), Poodle Toy (0.45), Poodle Miniature (0.20), Poodle Medium (0.05), Poodle Standard (0.00), Portuguese Water Dog (0.33), Chinese Crested Dog (0.02), Shipperke (0.06), and Australian Cattle Dog (0.00). The disease results in complete blindness in the affected individual in almost every case. The time of onset and disease progression varies between dog breeds as well as between individuals. A modifier gene is likely to segregate in genomic proximity to the PRCD gene and may influence phenotypic expression.

The aim of this study was to research the population structure and genetic diversity of the Nova Scotia Duck Tolling Retriever (NS) and the Lancashire Heeler (LH) dog breeds. Data consisted of nearly all the worldwide registration history for both breeds, including 28,668 NS and 4,782 LH individuals. A reference population, including the females born between 1999 and 2008, was defined for genetic analyses for each breed. Average depth of the pedigrees known for the reference population dogs was 12.9 complete generation equivalents in the NS and 6.0 in the LH. Only a small fraction of the born dogs were used later for breeding. Effective number of founders was 9.8 in the NS and 15.2 in the LH. More than 50% of the genetic diversity in the reference population was explained by two ancestors in the NS and five in the LH. Average inbreeding coefficients in the reference populations were 0.26 in the NS and 0.10 in the LH. Average kinships were 0.26 and 0.08 and realised effective population sizes 18 and 28, respectively. Failure to use available genetic resources for sustainable breeding has resulted in depletion of genetic variation in both breeds. To increase genetic variation, a larger proportion of the dogs should be used in reproduction and the contributions of reproducing animals should be equalized. In the LH, it is necessary to use the unregistered farm dogs in breeding. In the NS, crosses with another breed are needed.

Inherited hypoadrenocorticism occurs in some dog breeds including the Nova Scotia Duck Tolling Retriever (NSDTR) and is thought to be due to an immune attack on the adrenal glands. The genetic cause of this disorder in dogs has not been identified; however, many genes have been associated with hypoadrenocorticism and other immune-mediated conditions in humans including AIRE, BAFF, Casp10, CD28, CTLA-4, FASL, PTPN22, and TNFRSF6B. Microsatellite marker loci were analysed for linkage with the disease phenotype in a pedigree of NSDTRs and excluded all genes examined, the exception being CTLA-4, which was neither excluded nor shown to be associated by this analysis. Thus, genes associated with hypoadrenocorticism in humans were not linked with the condition in the dog. Further examination is necessary to identify the genetic cause of inherited hypoadrenocorticism in dogs and this may reveal a novel gene not yet implicated with immune-mediated disease.

Background A disease complex with chronic musculoskeletal signs, including stiffness and joint pain, and to which there is a strong predisposition in the canine breed Nova Scotia duck tolling retriever (Toller) has been recognized in Sweden. The aim of this first clinical description of the disorder in Tollers was to describe the clinical manifestations and laboratory findings, as well as to try to identify a possible immune-mediated background of the disease and to show the outcome of treatment in 33 Tollers. Methods The study included 33 Tollers with musculoskeletal signs and 20 healthy controls. All the dogs were thoroughly examined and followed for a period of 2 months – 4 years. An IIF-ANA (antinuclear antibody) test and an assay for the presence of antibodies to Anaplasma phagocytophilum and Borrelia burgdorferi sensu lato were performed, as well as some haematology, serum biochemistry and urine tests. Routine radiographic examinations were performed on 11 dogs. Results All the Toller patients showed stiffness and lameness that had lasted for at least 14 days and displayed pain from several joints of extremities on manipulation. Twenty-seven per cent of the dogs also showed muscle pain and 18% different skin symptoms. Seventy per cent of the Tollers with signs of disease displayed a positive IIF-ANA test. Most of the dogs were treated with corticosteroids, with the majority of the dogs (65%) showing good responses. There was no association between the IIF-ANA results and the clinical signs or results of treatment. Conclusion This paper describes a disorder in Nova Scotia duck tolling retrievers where the clinical signs, ANA reactivity and response to corticosteroids strongly suggest that the disorder is immune-mediated. The findings of this research may indicate a chronic systemic rheumatic disorder.

In this study, morbidity in insured Nova Scotia Duck Tolling Retriever (NSDTR) dogs from Sweden was investigated and compared with all other breeds and other retriever breeds. In addition to describing common morbidities in NSDTRs, the hypotheses that NSDTRs are predisposed to lymphoma, immune-mediated rheumatic disease (IMRD) and steroid-responsive meningitis-arteritis (SRMA) were tested. Included in the study were 445,336 dogs; of which, 2890 were NSDTRs that had been covered by veterinary insurance from the Agria Insurance Company (Stockholm, Sweden) at some point during the years 1995–2006. Incidences of various health problems were calculated using the number of veterinary visits as the numerator and the exact time at risk as the denominator. Overall, morbidity was higher in NSDTRs compared with all other breeds, but similar compared with other retriever breeds. The most common causes of veterinary visits in NSDTRs were injuries, gastrointestinal disease and locomotor disorders, with NSDTRs at increased risk of these compared with all other breeds. The incidences for IMRD, SRMA and lymphoma were significantly higher in NSDTRs than in all other dog breeds and all other retriever breeds. The study describes morbidity in NSDTRs, and identifies several disorders to which the breed is predisposed.