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Myotonia Congenita (Fainting Goat)
Test number: 8461
Gene: MC Price: £ 48.00 (including VAT)
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The Disease |
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Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction.
myotonia Congenita is associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1), which encodes for the most abundant chloride channel in the skeletal muscle cell membrane.
Clinical symptoms include restricted jaw opening, halitosis, varying degrees of gingivitis, pseudoptyalism, marked dental calculus accumulation with palpable loose teeth and evidence of poor grooming habits. Severe muscle hypertrophy was found along the cervical spine, proximal aspects of all limbs and the tongue, which protruded from the mouth, hard-to-open mandible. Often, trouble swallowing, as well as observed excessive salivation.
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Trait of Inheritance |
Autosomal Recessive
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop Myotonia Congenita (Fainting Goat). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / MC [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop Myotonia Congenita (Fainting Goat) 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: MC / MC [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop Myotonia Congenita (Fainting Goat) and will pass the mutant gene to its entire offspring
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Price
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£ 48.00 (including VAT)
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See also: |
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HCM 1 (Hypertrophic Cardiomyopathy)
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Osteochondrodysplasia (Scottish Fold Osteodystrophy) OCD
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HCM (Hypertrophic Cardiomyopathy HCM3/HCR)
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PKD (Feline Polycystic Kidney Disease)
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PK Deficiency (Pyruvate Kinase Deficiency)
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Progressive Retinal Atrophy ( rdAc - PRA )
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SMA (Spinal Muscular Atrophy )
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Serological Evaluation of blood Groups
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Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)
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Head Defect (BHD)
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Alpha-Mannosidosis (AMD)
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Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy
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Gangliosidosis GM1
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Gangliosidosis GM2
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Gangliosidosis GM2
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Mucopolysaccharidosis Type VI (MPS VI MPS6)
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Mucopolysaccharidosis type VII (MPS VII / MPS7)
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Progressive Retinal Atrophy (pd-PRA)
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Progressive Retinal Atrophy (rdy-PRA)
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Hypotrichosis and Short Life Expectancy
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Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA)
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Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups
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Primary Congenital Glaucoma (PCG)
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Cystinuria (Feline Cystinuria) (CY)
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Persian DNA bundle (PKD + pd-PRA + AMD + Blood Groups)
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British Short / Long Hair DNA bundle (PKD + pd-PRA + ALPS + Blood Groups)
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Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups
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Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6 + Blood Groups)
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Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def + Blood groups)
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Maine Coon DNA bundle (HCM1 + SMA + PK-Def + FXI + Blood Groups)
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Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA + Blood groups)
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Norwegian Forest DNA bundle (PK-Def + Amber + GSD4 + Blood groups)
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Siamese / Oriental DNA bundle (GM1 + MPS6 + PCG + rdAc-PRA + Blood Groups)
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Sphynx DNA bundle (HCM4 + Hypokalemia + CMS + Blood groups)
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Acrodermatitis enteropathica in Felis catus
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Factor XI deficiency ( F11 )
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MDR1 Gene Defect
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Skeletal Dysplasia
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Factor 12 FXII cat
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Devon Rex DNA bundle (CMS + Blood Groups + Long Coat + Rex Hair)
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Siberian DNA Bundle (Blood Groups + PK-Def + Dilution + Colourpoint)
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Genetic Blood groups in cats
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LABOGenetics XXL Cat - Comprehensive Feline DNA bundle
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Autoimmune Lymphoproliferative Syndrome (ALPS)
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Polydactyly (extra toes) / polydactylism / Polydactyl / hyperdactyly
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Unlisted DNA test
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Congenital Hypothyroidism (CH)
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Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs)
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Blue Eyes
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HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx
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Polycystic Kidney Disease 2 (PKD2)
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Glycogen Storage Disease ( GSD ) Type IV
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