Rough Collie

MDR1 - Multidrug Sensitivity

Poisoning after drug admission

Description: Abnormal function of a blood-brain barrier protein resulting in neurotoxicity due to admission of some drugs

Symptoms : hypersalivation, vomiting, ataxia, blindness, tremor, depression, coma, possibly death

Age of onset : From birth

Frequency : 85%

Gene involved : MDR1

Tested mutation : c.227_230delATAG

Transmission : Autosomal Codominant

Patent : VHL Licence

Notes : For more information about concerned drugs: www.vetmed.wsu.edu/depts-VCPL/drugs.aspx Heterozygotes may be subject to poisoning, with high variability between breeds, individuals, molecules and intake.

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Rough Collie

DM - Degenerative Myelopathy

Progressive paralysis

Description: Degenerative disease of the spinal cord causing progressive paralysis

Symptoms : Loss of coordination (ataxia) in the hind limbs until paraplegia, loss of urinary and fecal continence. If signs progress for a longer period of time, eventually weakness will develop in the front limbs.

Age of onset : Between 8 and 14 years old

Frequency : _

Gene involved : SOD1

Tested mutation : c.118G>A

Transmission : Autosomal Recessive

Patent : _

Notes :

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Rough Collie

VWD2 - von Willebrand's Disease Type II

Moderate to severe bleeding disorder

Description: Low level and abnormal function of von Willebrand factor, a protein involved in blood coagulation

Symptoms : Important bleedings or haemorrhagic episodes, potentially lethal, excessive gingival haemorrhage during eruption of adult teeth, nose bleeding, skin bruising, prolonged bleeding after surgery or trauma

Age of onset : From birth

Frequency : Not available

Gene involved : VWF

Tested mutation : A>G in a2 domain

Transmission : Autosomal Recessive

Patent : -

Notes :

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Rough Collie

MERLE - Merle Coat Colour

M locus

Description: DNA test can identify dogs carrying the genotype "Merle" (M Locus) and highlight double merles and cryptic merles

Symptoms : Patches of diluted pigment intermingled with normal melanin, blue eyes, often associated with a wide range of auditory and ophthalmologic abnormalities. Double merles are predominantly white

Age of onset : From birth

Frequency : Not available

Gene involved : SILV

Tested mutation : SINE insertion

Transmission : Autosomal Dominant

Patent : -

Notes :

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Rough Collie

CEA - Collie Eye Anomaly (Choroidal Hypoplasia - partner laboratory 90€)

Loss of vision

Description: Abnormal development of the choroid (a layer of tissue under the retina of the eye)

Symptoms : Variability of clinical signs according to the breed and individuals: - grade 1 and 2: mild form, without disablement and evolution - grade 3 and 4: severe form with retinal detachment and intraocular haemorrhage, might cause blindness

Age of onset : From the age of 8 weeks

Frequency : Not available

Gene involved : NHEJ1

Tested mutation : c.588+462_588+8260del7799bp

Transmission : Autosomal Recessive

Patent : _

Notes : Mild and severe forms being due to a single mutation in the same gene, dogs with a mild form may produce offspring presenting a severe form.

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Rough Collie

Description:

Symptoms :

Age of onset :

Frequency :

Gene involved :

Tested mutation :

Transmission :

Patent :

Notes :

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