Genetic Health Issues

carefully breeding to protect your FAMILY

So if you have already read our page on skeletal health, you know that there are some health issues with a genetic component that do not pass in a reliable way and depend largely on environment as to whether or not even an “at risk” dog suffers. To quickly recap, the genetic aspect of these issues are not fully understood, but the most in depth study has revealed that genetics in the most major of these issues dictate 25% of the risk of a dog having problems later in life, while 75% is determined by other factors in the dogs environment. As the specific genes that contribute to these issues have not been found, the “testing” for these skeletal issues is actually just screening that looks only at the traits a parent dog displays. This is called phenotypic testing, and is very unreliable in determining inheritance in the next generation. In addition, even with clearances from their screenings, unless a dog continues to be re-screened throughout life, you do not know whether or not a “clear” at 24 month dog goes on to remain healthy throughout life, or develop problems later. This is especially problematic as they have very likely produced puppies with families depending on their screening while the dog goes onto develop the exact problems families were concerned about later in life.

I recap all of this to tell you that there is ANOTHER group of diseases, disorders, and general issues that ARE understood in the canine genome and CAN be accurately and completely tested for! These genotypically testable issues, unlike things like hip and elbow dysplasia and patellar luxation, are easily and reliably tested for by looking at the DNA of parent dogs. This is called genotypic testing, and it looks completely at a dogs DNA and can tell before a dog is ever symptomatic with a problem whether or not the dog carries the genes to have that problem. This means that, when your puppy comes from a careful breeder with genetically health tested parents, you can be sure that your puppy will not suffer from a tested genetic disease during their life. This cannot rule out illness or injury totally, but can give you peace of mind that your pup is genetically safe from a wide variety of life-altering problems coming upon them.

If you come across a Cockapoo breeder who tells you that genetic testing is not necessary because of hybrid vigor, that is not true. Although hybrid vigor definitely DOES increase many desirable attributes in a dog’s health and wellness, it is only applicable to F1 or “first generation” crosses, and still cannot override what is actually written on the dog’s genes. Hybrid puppies are NOT exempt from genetic health problems, and to pretend otherwise marks a dishonest or uneducated breeder. Please read more about hybrid vigor, and all the wonderful things it DOES do here.

Many other breeders of hybrids dismiss genetic testing as many of the major illnesses and issues require two copies of a recessive gene to show up in a puppy. So, if the issue is only common in the Cocker breed, you can be fairly confident that a puppy won’t have issue as the Poodle parent should be clear——-and, in the reverse, if the issue is only common in the Poodle breed, you can be fairly confident that a puppy won’t have issue as the Cocker parent should be clear. The problem arises as we realize that a couple of the “common” issues in each parent breed actually overlap! Check out this table of seven of the most common genetic issues in each breed, and notice that TWO of the SEVEN show up on both sides! This rules out the feeling of safety in blindly crossing these two breeds without an understanding of the full genetic profile.

MOST COMMON GENETIC ISSUES OF THE AMERICAN COCKER SPANIEL

• Degenerative Myelopathy

• Exercise-Induced Collapse

• Glycogen storage disease Type VII, Phosphofructokinase deficiency

• Progressive Retinal Atrophy - prcd Progressive rod-cone degeneration

• Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy

• Congenital Macrothrombocytopenia

So, what do we do to give your pup his or her best set-up for life long health? Well, lots of things :) Specific to this topic, we do genetically test all of our parent dogs with a complete panel of 170+ genetic health conditions in 16 different areas of health. Although we didn’t do this for the first year of our program, and just depended on our careful selection, high standards, and scrutiny to our dogs lineage, we did decide that this was an area important enough to make a priority! Now, not all 170+ issues are common to the parent breeds we work with, but we wanted to be sure and get a FULL picture of what we were dealing with in order to protect your puppy and your family. When you take home a puppy from us, you can be sure that they will not have the genes to be genetically affected by:

Brain and Spinal Cord

·         Progressive Neuronal Abiotrophy (Canine Multiple System Degeneration) (SERAC1 Exon 15)
·         Benign Familial Juvenile Epilepsy, Remitting Focal Epilepsy (LGI2)
·         Cerebellar Ataxia, Progressive Early-Onset Cerebellar Ataxia (SEL1L)
·         Cerebellar Abiotrophy, Neonatal Cerebellar Cortical Degeneration (SPTBN2)
·         Narcolepsy (HCRTR2 Intron 6)
·         Spinocerebellar Ataxia, Late-Onset Ataxia (CAPN1)
·         Alaskan Husky Encephalopathy, Subacute Necrotizing Encephalomyelopathy (SLC19A3)
·         Spongy Degeneration with Cerebellar Ataxia 1 (SDCA1), SeSAME/EAST (KCNJ10)
·         Hypomyelination and Tremors (FNIP2)
·         Progressive Neuronal Abiotrophy (Canine Multiple System Degeneration) (SERAC1 Exon 4)
·         Degenerative Myelopathy (SOD1A)
·         L-2-Hydroxyglutaricaciduria (L2HGDH)
·         Polyneuropathy, NDRG1 Malamute Variant (NDRG1 Exon 4)
·         Spinocerebellar Ataxia with Myokymia and/or Seizures (KCNJ10)
·         Hereditary Sensory Autonomic Neuropathy (HSAN), Acral Mutilation Syndrome (GDNF-AS)
·         Juvenile-Onset Polyneuropathy, Leonberger Polyneuropathy 1 (LPN1, ARHGEF10)
·         Cerebellar Hypoplasia (VLDLR)
·         Spongy Degeneration with Cerebellar Ataxia 2 (SDCA2) (ATP1B2)
·         Fetal-Onset Neonatal Neuroaxonal Dystrophy (MFN2)
·         Shaking Puppy Syndrome, X-linked Generalized Tremor Syndrome (PLP)
·         Neonatal Encephalopathy with Seizures (NEWS) (ATF2)
·         Polyneuropathy, NDRG1 Greyhound Variant (NDRG1 Exon 15)
·         Juvenile Laryngeal Paralysis and Polyneuropathy, Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation (POANV) (RAB3GAP1, Rottweiler Variant)
·         Alexander Disease (GFAP)

Muscular

·         Myotonia Congenita (CLCN1 Exon 23)
·         Inherited Myopathy of Great Danes (BIN1)
·         Myotonia Congenita (CLCN1 Exon 7)
·         Centronuclear Myopathy (PTPLA)
·         Myostatin Deficiency, Bully Whippet Syndrome (MSTN)
·         Muscular Dystrophy Muscular Dystrophy (DMD Golden Retriever Variant)
·         Myotubular Myopathy 1, X-linked Myotubular Myopathy (MTM1)
·         Exercise-Induced Collapse (DNM1)
·         Muscular Dystrophy Cavalier King Charles Spaniel Variant 1
·         Muscular Dystrophy Muscular Dystrophy (DMD Pembroke Welsh Corgi Variant )

Blood

·         Factor VIII Deficiency, Hemophilia A (F8 Exon 1, Shepherd Variant 2)
·         Ligneous Membranitis (PLG)
·         Von Willebrand Disease Type I (VWF)
·         Pyruvate Kinase Deficiency (PKLR Exon 7 Pug Variant)
·         Factor IX Deficiency, Hemophilia B (F9 Exon 7, Terrier Variant)
·         Pyruvate Kinase Deficiency (PKLR Exon 7 Labrador Variant)
·         Pyruvate Kinase Deficiency (PKLR Exon 5)
·         Thrombopathia (RASGRP2 Exon 5, American Eskimo Dog Variant)
·         P2Y12 Receptor Platelet Disorder (P2RY12)
·         May-Hegglin Anomaly (MYH9)
·         Thrombopathia (RASGRP2 Exon 8)
·         Factor VIII Deficiency, Hemophilia A (F8 Exon 11, Shepherd Variant 1)
·         Factor VIII Deficiency, Hemophilia A (F8 Exon 10, Boxer Variant)
·         Factor VII Deficiency (F7 Exon 5)
·         Congenital Macrothrombocytopenia (TUBB1 Exon 1, Cavalier King Charles Spaniel Variant)
·         Von Willebrand Disease Type II (VWF)
·         Prekallikrein Deficiency (KLKB1 Exon 8)
·         Thrombopathia (RASGRP2 Exon 5, Basset Hound Variant)
·         Glanzmann's Thrombasthenia Type I (ITGA2B Exon 12)
·         Pyruvate Kinase Deficiency (PKLR Exon 10)
·         Factor IX Deficiency, Hemophilia B (F9 Exon 7, Rhodesian Ridgeback Variant)
·         Pyruvate Kinase Deficiency (PKLR Exon 7 Beagle Variant)
·         Trapped Neutrophil Syndrome (VPS13B)
·         Cyclic Neutropenia, Gray Collie Syndrome (AP3B1 Exon 20)
·         Canine Leukocyte Adhesion Deficiency Type III (LAD3) (FERMT3)
·         Von Willebrand Disease Type III (VWF Exon 4)
·         Canine Elliptocytosis (SPTB Exon 30)

Multisystem

·         Renal Cystadenocarcinoma and Nodular Dermatofibrosis (RCND) (FLCN Exon 7)
·         GM2 Gangliosidosis (HEXA)
·         Mucopolysaccharidosis Type I (IDUA)
·         Neuronal Ceroid Lipofuscinosis (MFSD8)
·         GM1 Gangliosidosis (GLB1 Exon 15 Shiba Inu Variant)
·         X-linked Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia (EDA Intron 8)
·         Globoid Cell Leukodystrophy, Krabbe disease (GALC Exon 5)
·         Neuronal Ceroid Lipofuscinosis 1 (PPT1 Exon 8)
·         Glycogen Storage Disease Type Ia, Von Gierke Disease (G6PC)
·         Neuronal Ceroid Lipofuscinosis (CLN5 Golden Retriever Variant)
·         Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), Dry Eye Curly Coat Syndrome (FAM83H Exon 5)
·         Neuronal Ceroid Lipofuscinosis 2 (TPP1 Exon 4)
·         Glycogen Storage Disease Type IIIa (GSD IIIa) (AGL)
·         Neuronal Ceroid Lipofuscinosis (CLN8 Australian Shepherd Variant)
·         Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Whippet and English Springer Spaniel Variant)
·         Neuronal Ceroid Lipofuscinosis 8 (CLN8 English Setter Variant)
·         Primary Ciliary Dyskinesia (CCDC39 Exon 3)
·         Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 1)
·         Lagotto Storage Disease (ATG4D)
·         Neuronal Ceroid Lipofuscinosis 1, Cerebellar Ataxia - NCL-A (ARSG Exon 2)
·         Neuronal Ceroid Lipofuscinosis 6 (CLN6 Exon 7)
·         Canine Fucosidosis (FUCA1)
·         GM1 Gangliosidosis (GLB1 Exon 2)
·         GM1 Gangliosidosis (GLB1 Exon 15 Alaskan Husky Variant)
·         Glycogen Storage Disease Type II, Pompe's Disease (GAA)
·         Adult-Onset Neuronal Ceroid Lipofuscinosis (ATP13A2)
·         Glycogen storage disease Type VII, Phosphofructokinase deficiency (PFKM Wachtelhund Variant)
·         GM2 Gangliosidosis (HEXB, Poodle Variant)
·         Neuronal Ceroid Lipofuscinosis 1 (CLN5 Border Collie Variant)
·         Neuronal Ceroid Lipofuscinosis 10 (CTSD Exon 5)
·         Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 3)
·         Mucopolysaccharidosis Type VII, Sly Syndrome (GUSB Exon 5)
·         Mucopolysaccharidosis Type IIIA, Sanfilippo Syndrome Type A (SGSH Exon 6 Variant 2)

Eyes

·         Progressive Retinal Atrophy Rod-cone dysplasia, rcd1a (PDE6B Exon 21 Sloughi Variant)
·         Canine Multifocal Retinopathy cmr3 (BEST1 Exon 10 Deletion)
·         Achromatopsia (CNGA3 Exon 7 German Shepherd Variant)
·         Glaucoma Primary Open Angle Glaucoma (ADAMTS17 Exon 2)
·         Canine Multifocal Retinopathy cmr3 (BEST1 Exon 10 SNP)
·         Canine Multifocal Retinopathy cmr1 (BEST1 Exon 2)
·         Progressive Retinal Atrophy - crd4/cord1 (RPGRIP1)
·         Glaucoma Primary Open Angle Glaucoma (ADAMTS17 Exon 11)
·         Progressive Retinal Atrophy - crd1 (PDE6B)
·         Canine Multifocal Retinopathy cmr2 (BEST1 Exon 5)
·         Progressive Retinal Atrophy - rcd1 Rod-cone dysplasia, rcd1 (PDE6B Exon 21 Irish Setter Variant)
·         Achromatopsia (CNGA3 Exon 7 Labrador Retriever Variant)
·         Glaucoma Primary Open Angle Glaucoma (ADAMTS10 Exon 9)
·         Progressive Retinal Atrophy (CNGB1)
·         Progressive Retinal Atrophy - prcd Progressive rod-cone degeneration (PRCD Exon 1)
·         Golden Retriever Progressive Retinal Atrophy 1 (SLC4A3)
·         Progressive Retinal Atrophy (SAG)
·         Macular Corneal Dystrophy (MCD) (CHST6)
·         Autosomal Dominant Progressive Retinal Atrophy (RHO)
·         Progressive Retinal Atrophy - rcd3 Rod-cone dysplasia, rcd3 (PDE6A)
·         Golden Retriever Progressive Retinal Atrophy 2 (TTC8)
·         Primary Lens Luxation (ADAMTS17)
·         Collie Eye Anomaly, Choroidal Hypoplasia (NHEJ1)
·         Hereditary Cataracts, Early-Onset Cataracts, Juvenile Cataracts (HSF4 Exon 9 Shepherd Variant)
·         Progressive Retinal Atrophy - crd2 (IQCB1)
·         Progressive Retinal Atrophy - CNGA (CNGA1 Exon 9)
·         Glaucoma Primary Open Angle Glaucoma (ADAMTS10 Exon 17)
·         Congenital stationary night blindness (RPE65)

Gastrointestinal

·         Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 53)

·         Imerslund-Grasbeck Syndrome, Selective Cobalamin Malabsorption (CUBN Exon 8)

Skin & Connective Tissues

·         Dystrophic Epidermolysis Bullosa (COL7A1)
·         Ectodermal Dysplasia, Skin Fragility Syndrome (PKP1)
·         Focal Non-Epidermolytic Palmoplantar Keratoderma, Pachyonychia Congenita (KRT16)
·         Ichthyosis (PNPLA1)
·         Hereditary Footpad Hyperkeratosis (FAM83G)
·         Ichthyosis (NIPAL4)
·         Ichthyosis, Epidermolytic Hyperkeratosis (KRT10)
·         Hereditary Nasal Parakeratosis (SUV39H2)
·         Ichthyosis (SLC27A4)
·         Musladin-Lueke Syndrome (ADAMTSL2)

Kidney and Bladder

·         Hyperuricosuria and Hyperuricemia or Urolithiasis (SLC2A9)
·         Cystinuria Type I-A (SLC7A9)
·         Protein Losing Nephropathy (NPHS1)
·         X-Linked Hereditary Nephropathy (Samoyed Variant 2) (COL4A5 Exon 35)
·         Polycystic Kidney Disease (PKD1)
·         Cystinuria Type II-A (SLC3A1)
·         Cystinuria Type I-A (SLC3A1)
·         Primary Hyperoxaluria (AGXT)
·         Autosomal Recessive Hereditary Nephropathy, Familial Nephropathy (COL4A4 Exon 3)
·         2,8-Dihydroxyadenine (2,8-DHA) Urolithiasis (APRT)

Hormones

·         Congenital Hypothyroidism (TPO, Tenterfield Terrier Variant)

Metabolic

·         Malignant Hyperthermia (RYR1)
·         Hypocatalasia, Acatalasemia (CAT)
·         Pyruvate Dehydrogenase Deficiency (PDP1)

Immune

·         Severe Combined Immunodeficiency (PRKDC)
·         X-linked Severe Combined Immunodeficiency (IL2RG Variant 2)
·         X-linked Severe Combined Immunodeficiency (IL2RG Variant 1)
·         Severe Combined Immunodeficiency (RAG1)
·         Complement 3 (C3) deficiency (C3)

Skeletal

·         Craniomandibular Osteopathy (CMO) (SLC37A2)
·         Hereditary Vitamin D-Resistant Rickets (VDR)
·         Osteogenesis Imperfecta, Brittle Bone Disease (COL1A2)
·         Cleft Lip and/or Cleft Palate (ADAMTS20)
·         Osteochondrodysplasia, Skeletal Dwarfism (SLC13A1)
·         Oculoskeletal Dysplasia 1, Dwarfism-Retinal Dysplasia (COL9A3, Labrador Retriever)
·         Osteogenesis Imperfecta, Brittle Bone Disease (SERPINH1)
·         Osteogenesis Imperfecta, Brittle Bone Disease (COL1A1)
·         Skeletal Dysplasia 2 (COL11A2)

Neuromuscular

·         Episodic Falling Syndrome (BCAN)
·         Congenital Myasthenic Syndrome (CHAT)
·         Congenital Myasthenic Syndrome (COLQ)

Heart

·         Long QT Syndrome (KCNQ1)
·         Dilated Cardiomyopathy (PDK4)

Clinical

·         MDR1 Drug Sensitivity (MDR1)
·         Alanine Aminotransferase (ALT) Activity (GPT)

Other Systems

·         Shar-Pei Autoinflammatory Disease (SPAID, Shar-Pei Fever) (MTBP)
·         Deafness and Vestibular Syndrome of Dobermans (DVDob, DINGS)
·         Persistent Mullerian Duct Syndrome (AMHR2)
·         Autosomal Recessive Amelogenesis Imperfecta (Italian Greyhound Variant)