Genetische Vielfalt
Der Test misst die genetische Vielfalt des Hundes durch Durchsuchen von tausenden Stellen in seiner DNA. Die genetische Vielfalt stellt die Heterozygotie Ebene innerhalb der Rasse oder Zuchtgruppe dar. Jeder getestete Hund aktualisiert die Ansicht der genetischen Vielfalt der Rasse.
Silken Windsprites wurden zu wenige getestet, um einen Mittelwert für die Rasse zu erstellen. Merlins individueller Wert ist 32.3 %, der Mittelwert aller getesteten Hunde ist 34.6 %.
140 Mutationen wurden getestet, die bei anderen Rassen gefunden wurden. Keine Funde für diesen Hund.
Die Mehrheit der getesteten genetischen Störungen folgt entweder einem rezessiven (autosomal oder x-chromosomal) oder einem dominanten Vererbungsmodell. Die Ergebnisse werden als ‚frei‘, ‚Träger‘ oder ‚betroffen‘ für rezessive und ‚frei‘ oder ‚betroffen‘ für dominant vererbte Störungen dargestellt.
Funktionsstörungen, die bei anderen Rassen gefunden wurden
Blood Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Bleeding disorder due to P2RY12 defect | Autosomal rezessiv | Frei |
| Canine Cyclic Neutropenia, Cyclic Hematopoiesis, Gray Collie Syndrome, (CN) | Autosomal rezessiv | Frei |
| Canine Leucocyte Adhesion Deficiency (CLAD), type III | Autosomal rezessiv | Frei |
| Factor IX Deficiency or Hemophilia B; Gly379Glu mutation | An das X-Chromosom gebunden, rezessiv | Frei |
| Factor IX Deficiency or Hemophilia B; mutation originally found in Airedale Terrier | An das X-Chromosom gebunden, rezessiv | Frei |
| Factor IX Deficiency or Hemophilia B; mutation originally found in German Wirehaired Pointer | An das X-Chromosom gebunden, rezessiv | Frei |
| Factor IX Deficiency or Hemophilia B; mutation originally found in Lhasa Apso | An das X-Chromosom gebunden, rezessiv | Frei |
| Factor VII Deficiency | Autosomal rezessiv | Frei |
| Factor VIII Deficiency or Hemophilia A; mutation originally found in Boxer | An das X-Chromosom gebunden, rezessiv | Frei |
| Factor VIII Deficiency or Hemophilia A; mutation originally found in German Shepherd Dog | An das X-Chromosom gebunden, rezessiv | Frei |
| Factor VIII Deficiency or Hemophilia A; p.Cys548Tyr mutation originally found in German Shepherd | An das X-Chromosom gebunden, rezessiv | Frei |
| Glanzmann Thrombasthenia Type I, (GT); mutation originally found in Pyrenean Mountain Dog | Autosomal rezessi | Frei |
| Hereditary Elliptocytosis | . | Frei |
| Hereditary Phosphofructokinase (PFK) Deficiency | Autosomal rezessiv | Frei |
| Macrothrombocytopenia; disease-linked SNP originally found in Norfolk and Cairn Terrier | Autosomal rezessiv | Frei |
| May-Hegglin Anomaly (MHA) | Autosomal dominant | Frei |
| Prekallikrein Deficiency | Autosomal rezessiv | Frei |
| Pyruvate Kinase Deficiency; mutation originally found in Basenji | Autosomal rezessiv | Frei |
| Pyruvate Kinase Deficiency; mutation originally found in Beagle | Autosomal rezessiv | Frei |
| Pyruvate Kinase Deficiency; mutation originally found in Labrador Retriever | Autosomal rezessiv | Frei |
| Pyruvate Kinase Deficiency; mutation originally found in Pug | Autosomal rezessiv | Frei |
| Pyruvate Kinase Deficiency; mutation originally found in West Highland White Terrier | Autosomal rezessiv | Frei |
| Thrombopathia; mutation originally found in Basset Hound | Autosomal rezessiv | Frei |
| Thrombopathia; mutation originally found in Eskimo Spitz | Autosomal rezessiv | Frei |
| Thrombopathia; mutation originally found in Landseer | Autosomal rezessiv | Frei |
| Trapped Neutrophil Syndrome, (TNS) | Autosomal rezessiv | Frei |
| Von Willebrand’s Disease (vWD) Type II | Autosomal rezessiv | Frei |
Dermal Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Dystrophic Epidermolysis Bullosa | Autosomal rezessiv | Frei |
| Epidermolytic Hyperkeratosis | Autosomal rezessiv | Frei |
| Hereditary Footpad Hyperkeratosis, (HFH) | Autosomal rezessiv | Frei |
| Lamellar Ichthyosis, (LI) | Autosomal rezessiv | Frei |
| Musladin-Lueke syndrome, (MLS) | Autosomal rezessiv | Frei |
| X-Linked Ectodermal Dysplasia, (XHED) | An das X-Chromosom gebunden, rezessiv | Frei |
Endocrine Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Congenital Hypothyroidism; mutation originally found in Toy Fox- and Rat Terrier | Autosomal rezessiv | Frei |
Immunologic Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Autosomal Recessive Severe Combined Immunodeficiency, (ARSCID) | Autosomal rezessiv | Frei |
| Complement 3 (C3) Deficiency | Autosomal rezessiv | Frei |
| Severe Combined Immunodeficiency in Frisian Water Dogs, (SCID) | Autosomal rezessiv | Frei |
| X-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Basset Hound | An das X-Chromosom gebunden, rezessiv | Frei |
| X-linked Severe Combined Immunodeficiency (XSCID); mutation originally found in Cardigan Welsh Corgi | An das X-Chromosom gebunden, rezessiv | Frei |
Metabolic Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Glycogen Storage Disease Type Ia, (GSD Ia) | Autosomal rezessiv | Frei |
| Glycogen Storage Disease Type II or Pompe’s Disease, (GSD II) | Autosomal rezessiv | Frei |
| Glycogen Storage Disease Type IIIa, (GSD IIIa) | Autosomal rezessiv | Frei |
| Hypocatalasia or Acatalasemia | Autosomal rezessiv | Frei |
| Intestinal Cobalamin Malabsorption or Imerslund-Gräsbeck Syndrome, (IGS); mutation originally found in Beagle | Autosomal rezessiv | Frei |
| Intestinal Cobalamin Malabsorption or Imerslund-Gräsbeck Syndrome, (IGS); mutation originally found in Border Collie | Autosomal rezessiv | Frei |
| Mucopolysaccharidosis Type 3A, (MPS IIIA); mutation originally found in Dachshund | Autosomal rezessiv | Frei |
| Mucopolysaccharidosis Type 3A, (MPS IIIA); mutation originally found in New Zealand Huntaway | Autosomal rezessiv | Frei |
| Mucopolysaccharidosis Type VII, (MPS VII); mutation originally found in Brazilian Terrier | Autosomal rezessiv | Frei |
| Mucopolysaccharidosis Type VII, (MPS VII); mutation originally found in German Shepherd | Autosomal rezessiv | Frei |
| Pyruvate Dehydrogenase Phosphatase 1 (PDP1) Deficiency | Autosomal rezessiv | Frei |
Muscular Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Cavalier King Charles Spaniel Muscular Dystrophy (CKCS-MD) | An das X-Chromosom gebunden, rezessiv | Frei |
| Centronuclear Myopathy, (CNM); mutation originally found in Great Dane | Autosomal rezessiv | Frei |
| Centronuclear Myopathy, (CNM); mutation originally found in Labrador Retriever | Autosomal rezessiv | Frei |
| Duchenne or Dystrophin Muscular Dystrophy, (DMD) | An das X-Chromosom gebunden, rezessiv | Frei |
| Muscular Hypertrophy (Double Muscling) | Autosomal rezessiv | Frei |
| Myotonia | Autosomal rezessiv | Frei |
| Myotonia Congenita; mutation originally found in Australian Cattle Dog | Autosomal rezessiv | Frei |
| X-Linked Myotubular Myopathy | An das X-Chromosom gebunden, rezessiv | Frei |
| Adult-Onset Neuronal Ceroid Lipofuscinosis, (Adult-onset NCL), mutation originally found in Tibetan terrier | Autosomal rezessiv | Frei |
| Alaskan Husky Encephalopathy, (AHE) | Autosomal rezessiv | Frei |
| Bandera’s Neonatal Ataxia, (BNAt) | Autosomal rezessiv | Frei |
| Benign Familial Juvenile Epilepsy or Remitting Focal Epilepsy | Autosomal rezessiv | Frei |
| Early-Onset Progressive Polyneuropathy; mutation originally found in Alaskan Malamute | Autosomal rezessiv | Frei |
| Early-Onset Progressive Polyneuropathy; mutation originally found in Greyhound | Autosomal rezessiv | Frei |
| Fetal Onset Neuroaxonal Dystrophy, (FNAD) | Autosomal rezessiv | Frei |
| Hereditary Ataxia or Cerebellar Ataxia; mutation originally found in Old English Sheepdog and Gordon Setter | Autosomal rezessiv | Frei |
| Hyperekplexia or Startle Disease | Autosomal rezessiv | Frei |
| Hypomyelination in Weimaraners | Autosomal rezessiv | Frei |
| L-2-Hydroxyglutaric aciduria, (L2HGA); mutation 1 originally found in Staffordshire Bull Terrier | Autosomal rezessiv | Frei |
| Lagotto Storage Disease, (LSD) | Autosomal rezessiv | Frei |
| Neonatal Cerebellar Cortical Degeneration or Cerebellar Abiotrophy, (NCCD) | Autosomal rezessiv | Frei |
| Neonatal Encephalopathy with Seizures, (NEWS) | Autosomal rezessiv | Frei |
| Neuronal Ceroid Lipofuscinosis 8, (NCL8) | Autosomal rezessiv | Frei |
| Neuronal Ceroid Lipofuscinosis 8, (NCL8); rare variant | Autosomal rezessiv | Frei |
| Neuronal Ceroid Lipofuscinosis Type 1, (NCL1) | Autosomal rezessiv | Frei |
| Neuronal Ceroid Lipofuscinosis Type 10, (NCL10) | Autosomal rezessiv | Frei |
| Progressive early-onset cerebellar ataxia; mutation originally found in Finnish Hound | Autosomal rezessiv | Kein Ergebnis |
| Spinal Dysraphism | Autosomal rezessiv | Frei |
| Spinocerebellar Ataxia with Myokymia and/or Seizures (SCA) | Autosomal rezessiv | Frei |
| Spinocerebellar Ataxia/ Late-Onset Ataxia (SCA, LOA) | Autosomal rezessiv | Frei |
| X-Linked Tremors; mutation originally found in English Springer Spaniel | An das X-Chromosom gebunden, rezessiv | Frei |
Neuromuscular Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Congenital Myasthenic Syndrome, (CMS) | Autosomal rezessiv | Frei |
| Episodic Falling, (EF) | Autosomal rezessiv | Frei |
| Globoid Cell Leukodystrophy or Krabbe’s Disease, (GLD); mutation originally found in Irish Setter | Autosomal rezessiv | Frei |
| Globoid Cell Leukodystrophy or Krabbe’s Disease, (GLD); Terrier mutation | Autosomal rezessiv | Frei |
| GM1 Gangliosidosis; mutation originally found in Alaskan Husky | Autosomal rezessiv | Frei |
| GM1 Gangliosidosis; mutation originally found in Portuguese Water Dog | Autosomal rezessiv | Frei |
| GM1 Gangliosidosis; mutation originally found in Shiba Dog | Autosomal rezessiv | Frei |
| GM2 Gangliosidosis, mutation originally found in Japanese Chin | Autosomal rezessiv | Frei |
| GM2 Gangliosidosis; mutation originally found in Toy Poodle | Autosomal rezessiv | Frei |
Ocular Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Canine Multifocal Retinopathy 1, (CMR1); Mastiff-related breeds mutation | Autosomal rezessiv | Frei |
| Canine Multifocal Retinopathy 2, (CMR2); mutation originally found in Coton de Tulear | Autosomal rezessiv | Frei |
| Canine Multifocal Retinopathy 3, (CMR3); mutation originally found in Lapponian Herder | Autosomal rezessiv | Frei |
| Cone Degeneration, (CD) or Achromatopsia | Autosomal rezessiv | Frei |
| Cone Degeneration, (CD) or Achromatopsia; mutation originally found in German Shorthaired Pointer | Autosomal rezessiv | Frei |
| Cone-Rod Dystrophy 1, (crd1); mutation originally found in American Staffordshire Terrier | Autosomal rezessiv | Frei |
| Cone-Rod Dystrophy 2, (crd2); mutation originally found in Pit Bull Terrier | Autosomal rezessiv | Frei |
| Cone-Rod Dystrophy, (cord1-PRA / crd4) | Autosomal rezessiv mit unvollständiger Ausprägung |
Frei |
| Cone-Rod Dystrophy, Standard Wirehaired Dachshund, (crd SWD) | Autosomal rezessiv | Frei |
| Dominant Progressive Retinal Atrophy, (DPRA) | Autosomal dominant | Frei |
| Early Retinal Degeneration, (erd); mutation originally found in Norwegian Elkhound | Autosomal rezessiv | Frei |
| Generalized Progressive Retinal Atrophy | Autosomal rezessiv | Frei |
| Glaucoma in the Norwegian Elkhound | Autosomal rezessiv | Frei |
| Golden Retriever Progressive Retinal Atrophy 1, (GR_PRA 1) | Autosomal rezessiv | Frei |
| Primary Hereditary Cataract (PHC); mutation originally found in Australian Shepherd | Autosomal dominant mit unvollständiger Ausprägung |
Frei |
| Primary Lens Luxation, (PLL) | Autosomal rezessiv | Frei |
| Primary Open Angle Glaucoma, (POAG); mutation originally found in Beagle | Autosomal rezessiv | Frei |
| Progressive Retinal Atrophy, (PAP1_PRA); mutation originally found in Papillon and Phalene | Autosomal rezessiv | Frei |
| Progressive Retinal Atrophy, (PRA); mutation originally found in Basenji | Autosomal rezessiv | Frei |
| Rod-Cone Dysplasia 1, (rcd1); mutation originally found in Irish Setter | Autosomal rezessiv | Frei |
| Rod-Cone Dysplasia 1a, (rdc1a); mutation originally found in Sloughi | Autosomal rezessiv | Frei |
| Rod-Cone Dysplasia 3, (rcd3) | Autosomal rezessiv | Frei |
| X-Linked Progressive Retinal Atrophy 1, (XLPRA1) | An das X-Chromosom gebunden, rezessiv | Frei |
| X-Linked Progressive Retinal Atrophy 2, (XLPRA2) | An das X-Chromosom gebunden, rezessiv | Frei |
Other Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Amelogenesis Imperfecta, (AI) | Autosomal rezessiv | Frei |
| Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis, (CKCSID) | Autosomal rezessiv | Frei |
| Narcolepsy; mutation originally found in Dachshunds | Autosomal rezessiv | Frei |
| Narcolepsy; mutation originally found in Doberman Pinscher | Autosomal rezessiv | Frei |
| Narcolepsy; mutation originally found in Labrador Retriever | Autosomal rezessiv | Frei |
| Persistent Müllerian Duct Syndrome, (PMDS); mutation originally found in Miniature Schnauzer | Autosomal rezessiv | Frei |
| Primary Ciliary Dyskinesia, (PCD) | Autosomal rezessiv | Frei |
Pharmacogenetics
| Funktionsstörung | Erbgang | Ergebnis |
| Malignant Hyperthermia (MH) | Autosomal dominant | Frei |
Renal Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Cystinuria Type I-A; mutation originally found in Newfoundland Dog | Autosomal rezessiv | Frei |
| Cystinuria, Type II-A; mutation originally found in Australian Cattle Dog | Autosomal dominant | Frei |
| Cystinuria, Type II-B; mutation originally found in Miniature Pinscher | Autosomal dominant | Frei |
| Hyperuricosuria, (HUU) | Autosomal rezessiv | Frei |
| Polycystic Kidney Disease in Bull Terriers, (BTPKD) | Autosomal dominant | Frei |
| Primary Hyperoxaluria, (PH); mutation originally found in Coton de Tulear | Autosomal rezessiv | Frei |
| Renal Cystadenocarcinoma and Nodular Dermatofibrosis, (RCND) | Autosomal dominant | Frei |
| X-Linked Hereditary Nephropathy, (XLHN) | An das X-Chromosom gebunden, rezessiv | Frei |
Skeletal Disorders
| Funktionsstörung | Erbgang | Ergebnis |
| Chondrodysplasia; mutation originally found in Norwegian Elkhound and Karelian Bear Dog | Autosomal rezessiv | Frei |
| Cleft Palate; Cleft Lip and Palate with Syndactyly; DLX6 gene mutation originally found in Nova Scotia Duck Tolling Retriever | Autosomal rezessiv | Frei |
| Craniomandibular Osteopathy, (CMO) | Autosomal dominant mit unvollständiger Ausprägung |
Frei |
| Hereditary Vitamin D-Resistant Rickets, (HVDRR) | Autosomal rezessiv | Frei |
| Oculoskeletal Dysplasia 2 or Dwarfism-Retinal Dysplasia 2 | Autosomal rezessiv | Frei |
| Osteochondrodysplasia in Miniature Poodles | Autosomal rezessiv | Frei |
| Osteogenesis Imperfecta, (OI) found in the Beagle | . | Frei |
| Osteogenesis Imperfecta, (OI) or Brittle Bone Disease; mutation originally found in Dachshund | Autosomal rezessiv | Frei |
| Skeletal Dysplasia 2, (SD2) | Autosomal rezessiv | Frei |
Merkmale
Fellfarben
| Merkmal / Eigenschaft | Genotyp |
| Color Locus E – Extensions Beschreibung: The dog is likely to have a dark mask. |
Em/E |
| Color Locus E (MC1R gene): Recessive Red, Yellow, Cream (e allele) Beschreibung: Dogs with this genotype do not carry any copies of the recessive e allele, instead they carry two copies of a genetic variant that is typically associated with dark coat colours, like black, brown or blue, but also with other colours. As this test evaluates the presence of a general colour modifying element, carrying this genotype means that effect of other colour modifying loci can be expressed and manifested in the dog’s appearance. |
C/C |
| Color Locus E (MC1R gene): Dark Mask (Em allele) Beschreibung: Dogs with this genotype have one copy of the Em allele typically associated with a dark facial mask. |
A/G |
| Color Locus E (MC1R gene): Grizzle, Domino (Eg allele) Beschreibung: Dogs with this genotype do not carry any copies of the EG allele, the genetic variant associated with grizzle or domino coat colour. |
G/G |
| Color Locus B – Brown Beschreibung: The dog doesn’t have any of the tested b alleles causing brown color. |
B/B || B/bd || bd/bd |
| Color Locus B (TYRP1 gene): brown, liver (bc allele) Beschreibung: Dogs with this genotype do not carry any copies of the bc allele typically associated with brown coat color. |
T/T |
| Color Locus B (TYRP1 gene): brown, liver (bs allele) Beschreibung: Dogs with this genotype do not carry any copies of the tested bs allele typically associated with brown coat color. |
C/C |
| Color Locus K – Dominant Black Beschreibung: The dog is likely to express the coat color defined by the color locus A. |
ky/ky |
| Color Locus K (CBD103 gene): Dominant Black (KB allele) Beschreibung: Dogs with this genotype have no copies of the KB allele associated with solid black coat color. |
-/- |
| Color Locus A – Agouti Beschreibung: The dog is genetically sable. The dog carries tan points or saddle tan color. |
ay/at |
| Color locus A (ASIP gene): Fawn, sable (ay-allele) Beschreibung: Dogs with this genotype have one copy of the ay allele associated with fawn or sable coat color. |
G/T |
| Color Locus A (ASIP gene): Black and Tan, Saddle Tan (at allele) Beschreibung: Dogs with this genotype have one copy of the at allele associated with black and tan or saddle tan color. |
C/T |
| Color Locus A (ASIP gene): Recessive Black (a allele) Beschreibung: Dogs with this genotype don’t carry the a allele associated with recessive black coat color. |
G/G |
| Color Locus S – Piebald or extreme white spotting Beschreibung: The dog is likely to have solid coat color or few white spots in its coat. |
S/sp |
| Color Locus S: Piebald or extreme white spotting Beschreibung: Dogs with this genotype have one copy of the allele typically associated with piebald spotting or extreme white spotting. |
-/INS |
| Color Locus H – Harlequin Beschreibung: The dog doesn’t have harlequin pattern. |
h/h |
| Color Locus H (PSMB7 gene): Harlequin (H allele) Beschreibung: Dogs with this genotype don’t carry the H allele associated with harlequin patterning. |
T/T |
| Color Pattern – Saddle Tan Beschreibung: The dog may have saddle tan pattern if it has also tan point genotype at the A locus. |
-/dup |
Fellart
| Merkmal / Eigenschaft | Genotyp |
| Improper Coat in Portuguese Water Dogs (marker test) Beschreibung: The dog is not genetically likely to express furnishings. |
GG/TC |
| Furnishings (moustache and eyebrows) / Improper Coat in Portuguese Water Dogs, variant chr13:11676852 Beschreibung: The dog does not have the variant associated with furnishings. |
G/G |
| Coat Furnishings (moustache and eyebrows) / Improper Coat in Portuguese Water Dogs, variant chr13:11659792 Beschreibung: Dogs with this genotype carry one copy of the genetic variant strongly associated with furnishings and one copy of the genetic variant associated with the wild type phenotype (improper coat in Portuguese Water Dog). The T-allele shows strong correlation with furnishings and dogs with this genotype often express said trait. The heterozygous genotype (C/T) is common in breeds like Parson Russel Terrier and Kromfohrländer. |
C/T |
| Coat length Beschreibung: The dog carries two copies of the genetic variant typically associated with a long-haired coat. Dogs with this genotype typically have long coat. |
T/T |
| Curly coat | Kein Ergebnis |
Morphology
| Merkmal / Eigenschaft | Genotyp |
| Bobtail Beschreibung: The dog does not carry any copy of the bobtail mutation. It therefore likely has a long-tailed phenotype. |
C/C |
| Body mass, insulin-like growth factor 1 (IGF1) gene variant Beschreibung: The dog is heterozygous for this variant. This means that it carries one copy of the genetic variant typically associated with small body mass and one copy typically associated with large body mass. This genotype is often observed e.g. in Shetland Sheepdog, Border Collie and Welsh Corgi. |
A/G |
| Ear erectness (pricked ears versus floppy ears), variant chr10:11072007 Beschreibung: The dog is homozygous and carries two copies of a genetic variant typically associated with pricked ears. This genotype is common in breeds like Finnish Spitz, German Shepherd, Samoyed, Terriers and in Collie-related breeds. |
T/T |
| Snout/skull length (shortened head versus elongated head), bone morphogenetic protein 3 (BMP3) gene variant Beschreibung: Your dog is homozygous for the genetic variant typically found in breeds with an elongated head (e.g. Saluki, Collie, Irish Wolfhound). |
C/C |
| Tiny size, insulin-like growth factor 1 receptor (IGF1R) gene variant Beschreibung: Your dog is homozygous for a genetic variant typically found in larger-sized breeds (height at the withers > 25.4 cm (10 inches)). |
G/G |