O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Cachorro Miopatia centronuclear em Border Collie (CNM-BC)
Centronuclear Myopathy (CNM) is a genetic disorder affecting Border Collies, characterized by muscle weakness and exercise intolerance. A DNA test for CNM is essential for responsible breeding, helping to identify carriers and reduce the risk of this debilitating condition. This simple yet effective test enables dog owners and breeders to make informed decisions, ensuring healthier puppies. By understanding the genetic predisposition to CNM, owners can provide better care and management for affected dogs. Regular screening through DNA testing not only promotes the health of individual dogs but also contributes to the overall well-being of the Border Collie breed. Invest in a CNM DNA test today to safeguard your canine companion’s future.
Abreviatura: CNM-BC
Mutação analisada: DNM2 c.1393C>T
Herança: Autossômico Recessivo
Acrônimo
CNM-BC
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Musculares
Mutação analisada
DNM2 c.1393C>T
p.(R465W)
p.(R465W)
Modo de herança
Autossômico Recessivo
Resumo do teste:
Centronuclear Myopathy (CNM) is a genetic disorder affecting Border Collies, characterized by muscle weakness and exercise intolerance. A DNA test can identify carriers and affected dogs, enabling breeders to make informed decisions to reduce the prevalence of this condition. Early detection through genetic testing can help owners manage symptoms and improve the quality of life for affected pets. Responsible breeding practices based on test results play a crucial role in preserving the health of the breed. Overall, DNA testing for CNM enhances breed welfare and promotes healthier generations of Border Collies.
Disponível no pacote: Basic
Este teste de DNA está incluído a partir do nosso pacote Basic - e também faz parte dos packs Basic, Standard, Advanced, Complete.
Ver pacotes de teste de DNA →Escolha o pack que melhor se adapta à sua estratégia de criação ou saúde dos seus animais.
Overview of Centronuclear Myopathy (CNM) in Border Collies
Centronuclear Myopathy (CNM) is a hereditary muscle disorder found in Border Collies. Characterized by weakness and muscle atrophy, this genetic condition significantly affects the dog's motor capabilities and overall quality of life. CNM results from mutations in specific genes leading to improper muscle fiber development and function.
Sinais e Sintomas Clínicos
Dogs affected by CNM typically exhibit clinical signs from a young age. Common symptoms include muscle weakness, reduced physical activity, exercise intolerance, abnormal gait, and muscle wasting. Severely affected dogs may have difficulty standing or walking, potentially impacting their ability to perform routine daily activities.
Genetic Basis of Centronuclear Myopathy
CNM in Border Collies is inherited in an autosomal recessive manner. This means a dog must inherit two copies of the mutated gene—one from each parent—to exhibit symptoms. Dogs carrying only one copy of the mutation (carriers) do not typically show signs but can pass the mutation onto offspring.
Importance of DNA Testing for CNM
DNA testing is essential for identifying the CNM mutation in Border Collies. Early identification of affected and carrier dogs helps breeders make informed decisions, preventing the spread of the condition. DNA testing enables responsible breeding practices, assisting in reducing and eventually eliminating the occurrence of this debilitating condition.
Interpretation of DNA Test Results
The DNA test clearly distinguishes three genetic statuses:
Recommendations for Breeders and Owners
Breeders are advised to conduct CNM DNA testing in breeding dogs before mating. Clear mating strategies should be selected to avoid producing affected puppies. Owners of Border Collies should consult veterinarians and genetic specialists for guidance on managing dogs diagnosed with CNM, ensuring the best possible quality of life.
Raça reconhecida para o teste: Miopatia centronuclear em Border Collie (CNM-BC)
- Bearded Collie
- Border Collie
- Farm Collie
- Old Farm Collie
- Rough Collie
- Scottish Collie
- Scottish Rough Collie
- Scottish Smooth Collie
- Smooth Collie
🧬 Interpretation of genotypes CNM-BC
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/CNM-BC
Transportadora - Sem Risco
❌ CNM-BC/CNM-BC
Afetados - Em risco
FAQ: entendendo a interpretação
Um “transportador” é sério?
Não. O animal é geralmente saudável, mas pode transmitir a mutação ao seu descendência.
E se um animal for “afetado”?
Ele carrega duas cópias mutadas. Os sinais clínicos são esperados dependendo a doença. Não deveria ser criado.
Por que existem diferenças entre homem/mulher?
Algumas doenças estão ligadas ao sexo, pelo que a sua expressão varia dependendo do sexo do animal.
Prever descendência
N/N (nao-portador)
N/CNM-BC (Operadora)
CNM-BC/CNM-BC (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Centronuclear Myopathy In Border Collie (CNM) in order to identify clear, carrier, or at-risk animals.
Por que testar um animal reprodutor?
Os testes de DNA ajudam os criadores a planejar acasalamentos mais seguros e a reduzir o risco de transmissão da mutação aos descendentes.
Qual é o modo de herança deste teste?
O modo de herança relatado para este teste é Autossômico Recessivo.
Qual mutação é analisada neste teste?
This test analyses the mutation DNM2 c.1393C>T.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Böhm Johann, Barthélémy Inès, Landwerlin Charlène, BlanchardGutton Nicolas, Relaix Frédéric, Blot Stéphane, Laporte Jocelyn, Tiret Laurent. A dog model for centronuclear myopathy carrying the most common DNM2 mutation. Dis Model Mech. 2022 Apr 1;15(4):dmm049219. doi: 10.1242/dmm.049219. Epub 2022 Apr 14.