Hvað þýðir "Hreinsa"?
Dýrið ber ekki stökkbreytinguna. Það mun ekki þróa sjúkdóminn og mun ekki gefa það áfram.
Hundur Centronuclear Myopathy 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.
Skammstöfun: CNM-BC
Grein stökkbreyting: DNM2 c.1393C>T
Erfðir: Autosomal víkjandi
Skammstöfun
CNM-BC
Athuguð tíðni
Klínísk alvarleiki
Klínísk flokkun
Vöðvasjúkdómar
Greind stökkbreyting
DNM2 c.1393C>T
p.(R465W)
p.(R465W)
Erfðamáti
Autosomal víkjandi
Próf samantekt:
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.
Fáanlegt úr pakkanum: Basic
Þetta DNA próf er innifalið frá pakkanum okkar Basic — og er líka hluti af pökkunum Basic, Standard, Advanced, Complete.
Skoða DNA prófunarpakka →Veldu pakkann sem passar best við ræktunar- eða heilsustefnu dýranna þinna.
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.
Klínísk einkenni og einkenni
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.
Tegund viðurkennd fyrir prófið: Centronuclear Myopathy 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
Arfgerð
Staða
🟡 N/N
Ekki flutningsaðili - Engin áhætta
🟡 N/CNM-BC
Flutningsaðili - Engin áhætta
❌ CNM-BC/CNM-BC
Fyrir áhrifum - í hættu
Algengar spurningar: skilja túlkunina
Er „flutningsaðili“ alvara?
Nei. Dýrið er almennt heilbrigt en getur sent stökkbreytinguna til þess afkvæmi.
Hvað ef dýr hefur „áhrif“?
Það ber tvö stökkbreytt eintök. Búist er við klínískum einkennum eftir því sjúkdómnum. Það ætti ekki að rækta það.
Af hverju er munur á karli / konu?
Sumir sjúkdómar eru kyntengdir, þannig að tjáning þeirra er mismunandi eftir því kynlíf dýra.
Spáðu í afkvæmi
N/N (ekki-flutningsadili)
N/CNM-BC (Flytjandi)
CNM-BC/CNM-BC (Fyrir áhrifum)
Algengar spurningar um DNA próf
Hvað greinir þetta DNA próf?
This DNA test detects the mutation associated with Centronuclear Myopathy In Border Collie (CNM) in order to identify clear, carrier, or at-risk animals.
Af hverju að prófa ræktunardýr?
DNA próf hjálpar ræktendum að skipuleggja öruggari pörun og draga úr hættu á að stökkbreytingin berist til afkvæma.
Hver er arfleifð þessa prófs?
Erfðastillingin sem tilkynnt er um fyrir þetta próf er Autosomal Recessive.
Hvaða stökkbreyting er greind í þessu prófi?
This test analyses the mutation DNM2 c.1393C>T.
Er burðardýr endilega fyrir áhrifum?
Ekki endilega. Túlkun fer eftir erfðamynstri og arfgerðinni sem myndast.
Heimildir
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.