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Brittle Bone Disease (Osteogenesis Imperfecta)
Breeds
Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund .
The Disease
Osteogenesis Imperfecta is a generalized, inherited bone defect characterized by extreme fragility of bones and loose joints. The bones can break easily, sometimes they break for no known reason. The long bones are slender and have thin cortices. Calluses and recent fractures may be present. The disease can also cause weak muscles, brittle teeth, curved spine and hearing loss. The cause of the disease is a gene defect that affects how the body makes collagen, a protein that helps make bones strong
Clinical Signs
Clinical signs include pain, spontaneous bone and teeth fractures, loose joints, and reduced bone density on radiography. Primary teeth are extremely thin-walled and brittle Osteogenesis imperfecta can range from mild to severe and symptoms vary from one dog to another.
Trait of Inheritance
Osteogenesis imperfecta Is inherited as a autosomal recessive trait

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

  Dam   Offspring
         
Clear
x
Clear
>
100% Clear
         
clear
x
carrier
>
50%  Clear + 50% carriers
         
clear
x
affected
>
100% carriers
         
carrier
x
Clear
>
50%  Clear + 50% carriers
         
carrier
x
carrier
>
25% clear + 25% affected + 50% carriers
         
carrier
x
affected
>
50% carriers + 50% affected
         
affected
x
Clear
>
100%  carriers
         
affected
x
carrier
>
50% carriers + 50% affected
         
affected
x
affected
>
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

The dog will never develop Brittle Bone Disease (Osteogenesis Imperfecta) and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / OI [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog will never develop Brittle Bone Disease (Osteogenesis Imperfecta) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: OI / OI [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog will develop Brittle Bone Disease (Osteogenesis Imperfecta) and will pass the mutant gene to its entire offspring
 
Further reading
Further readingHTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
within 7 working days
Price
£ 55.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
Copper Toxicosis  
Progressive Retinal Atrophy (Dominant PRA)  
Globoid Cell Leukodystrophy (Krabbe Disease)  
CSNB (Congenital Stationary Night Blindness)  
CLAD (Canine Leukocyte Adhesion Deficiency)  
Cystinuria  
von Willebrand disease Type II (vWD II)  
PK Deficiency (Pyruvate Kinase Deficiency)  
Fucosidosis  
PFK Deficiency (Phosphofructokinase deficiency)  
Myotonia Congenita  
MH (Malignant Hyperthermia)  
X-Linked Severe Combined Immunodeficiency (X-SCID)  
GM1-Gangliosidosis  
Narcolepsy  
Muscular Dystrophy (MD)  
MPS ( Mucopolysaccharidosis type VII)  
Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM)  
Canine Cyclic Neutropenia (Gray Collie Syndrome)  
Progressive Retinal Atrophy (cord1- PRA)not recommended for diagnosis  
Progressive Retinal Atrophy (prcd - PRA)  
L-2-HGA ( L- 2 - hydroxyglutaric aciduria )  
von Willebrand disease Type I (vWD I)  
von Willebrand disease Type III (vWD III)  
Neuronal Ceroid Lipofuscinosis ( NCL )  
Trapped Neutrophil Syndrome ( TNS )  
Progressive Retinal Atrophy (crd PRA)  
PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency)  
Factor VII Deficiency  
Progressive Retinal Atrophy (rcd1 PRA)  
Progressive Retinal Atrophy (rcd3 PRA)  
Progressive Retinal Atrophy (rcd1a PRA)  
MDR1 Gene Defect / Ivermectin Sensitivity  
Exercise Induced Collapse ( EIC )  
Dwarfism (Pituitary Dwarfism / Hypopituitarism)  
Degenerative Myelopathy / degenerative radiculomyelopathy)  
Greyhound Neuropathy (Hereditary Neuropathy)  
Glycogen Storage Disease (GSDllla)  
Hereditary Cataract  
Hyperuricosuria (HUU, SLC)  
Neonatal encephalopathy (NE)  
Haemophilia B (factor IX deficiency)  
JEB (Junctional Epidermolysis bullosa)  
Primary Lens Luxation (PLL)  
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) *  
Brachyury (Bobtail Gene / Short Tail)  
Dilated Cardiomyopathy (DCM) *  
Familial Nephropathy (FN) / Hereditary Nephropathy *  
Startle Disease (SD) / Hyperekplexia  
Familial Nephropathy (FN) / Hereditary Nephropathy  
Myostatin Mutation ("Bully" Whippet)/ Double Muscling  
Hereditary Nephritis / Samoyed Hereditary Glomerulopathy  
Episodic Falling in Cavalier King Charles Spaniel (EF)  
Dry Eye and Curly Coat syndrome (CCS)  
Episodic Falling + Dry Eye Curly Coat syndrome

LIMITED PERIOD OFFER ONLY £55
FOR BOTH TESTS

 
Haemophilia A (factor VIII deficiency)  
Congenital Hypothyreosis / hypothyroidism (CHG)  
Hereditary Nasal Parakeratosis (HNPK)  
Hereditary Necrotizing Myelopathy (ENM)*  
Juvenile dilated cardiomyopathy (JDCM)*  
Juvenile epilepsy*  
Musladin-Lueke syndrome (MLS)  
Ichthyosis  
Neonatal Cortical Cerebellar Abiotrophy (NCCD)  
Dwarfism (Skeletal Dysplasia 2)  
Primary Open Angle Glaucoma (POAG)  
Progressive Retinal Atrophy (generalized PRA)  
Progressive Retinal Atrophy (GR-PRA1)  
Progressive retinal atrophy ( rcd4-PRA) / LOPRA  
Alaskan Malamute Polyneuropathy (AMPN)  
Pug Dog Encephalitis (PDE) / Necrotizing Meningoencephalitis (NME)  

 
 
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125 Northenden Road, Manchester, M33 3HF
Tel. 0161 282 3066