Hva betyr "Tøm"?
Dyret bærer ikke mutasjonen. Det vil ikke utvikle sykdommen og vil ikke gi det videre.
Hund Centronuclear Myopati In 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.
Forkortelse: CNM-BC
Analysert mutasjon: DNM2 c.1393C>T
Arv: Autosomal recessiv
Akronym
CNM-BC
Observert frekvens
Klinisk alvorlighetsgrad
Klinisk klassifisering
Muskelsykdommer
Analysert mutasjon
DNM2 c.1393C>T
p.(R465W)
p.(R465W)
Metode for arv
Autosomal recessiv
Testsammendrag:
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.
Tilgjengelig fra pakken: Basic
Denne DNA-testen er inkludert fra pakken vår Basic — og er også en del av pakkene Basic, Standard, Advanced, Complete.
Se DNA-testpakker →Velg pakken som passer best til din avl eller helsestrategi for dyrene dine.
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.
Kliniske tegn og symptomer
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.
Rase anerkjent for testen: Centronuclear Myopati In 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
Genotype
Status
🟡 N/N
Ikke-transportør - Ingen risiko
🟡 N/CNM-BC
Transportør - Ingen risiko
❌ CNM-BC/CNM-BC
Berørt - i faresonen
FAQ: forstå tolkningen
Er en "Carrier" seriøs?
Nei. Dyret er generelt sunt, men kan overføre mutasjonen til dens avkom.
Hva om et dyr er "påvirket"?
Den har to muterte kopier. Kliniske tegn forventes avhengig av sykdommen. Det skal ikke avles.
Hvorfor er det forskjeller mellom mann og kvinne?
Noen sykdommer er kjønnsbundne, så uttrykket deres varierer avhengig av dyrs kjønn.
Forutsi avkom
N/N (ikke-transportor)
N/CNM-BC (Transportør)
CNM-BC/CNM-BC (Berørt)
Vanlige spørsmål om DNA-test
Hva oppdager denne DNA-testen?
This DNA test detects the mutation associated with Centronuclear Myopathy In Border Collie (CNM) in order to identify clear, carrier, or at-risk animals.
Hvorfor teste et avlsdyr?
DNA-testing hjelper oppdrettere med å planlegge sikrere parringer og redusere risikoen for å overføre mutasjonen til avkom.
Hva er arvemodusen for denne testen?
Arvemodusen som er rapportert for denne testen er autosomal recessiv.
Hvilken mutasjon analyseres i denne testen?
This test analyses the mutation DNM2 c.1393C>T.
Er et bærerdyr nødvendigvis påvirket?
Ikke nødvendigvis. Tolkning avhenger av arvemønsteret og den resulterende genotypen.
Referanser
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.