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Charcot Marie Tooth Disease (Type 4B2)

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Test Overview:

Never breed two carriers. Breeding two carriers (N/P x N/P) will result in a 25% chance of affected puppies (P/P), 50% carriers, and only 25% clear progeny. Ideal Pairing: Breed clear dogs (N/N) to either other clear dogs or carriers (N/P). This prevents affected puppies. When breeding a carrier to a clear, 50% of puppies may be carriers (N/P) and 50% will be clear (N/N), but none will be affected. Do not breed affected dogs. Dogs diagnosed with CMT4B2 should not be used for breeding due to the high risk of producing affected offspring. Long-term Strategy: Aim to reduce carrier frequency by gradually breeding carriers only to clears and selecting clear offspring for future breeding. Over time, this lowers disease prevalence in the breed without removing valuable lines too rapidly.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

MTMR13

Variant Detected:

c.2363+1 G>T in exon 19

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Farré Mariné, A, Granger, N, Bertolani, C, Mascort Boixeda, J, Shelton, GD, Luján Feliu-Pascual, A. Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases. J Vet Intern Med. 2020; 34:2005-2011. [PubMed: 32738000] Granger N, Luján Feliu-Pascual A, Spicer C, Ricketts S, Hitti R, Forman O, Hersheson J, Houlden H. Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model. PeerJ. 2019 Nov 21;7: e7983 [PubMed: 31772832]

Associated Breed(s):

Miniature Schnauzer, Mixed Breed,

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