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Madra Mioapaite lárnúicléach i gCoill na Teorann (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.

Giorrúchán: CNM-BC
Claochlú anailísithe : DNM2 c.1393C>T
Oidhreacht : Cúlaitheach Uathsomal

Acrainm

CNM-BC

Minicíocht breathnaithe

Annamh

déine cliniciúil

Measartha

Aicmiú cliniciúil

Galair Mhatánacha

Claochlú anailísithe

DNM2 c.1393C>T
p.(R465W)

Modh oidhreachta

Cúlaitheach Uathsomal

Achoimre tástála:

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.

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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.

Comharthaí agus Comharthaí Cliniciúla

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.


Pór aitheanta don tástáil : Mioapaite lárnúicléach i gCoill na Teorann (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

Géinitíopa
Stádas
🟡 N/N
Neamh-iompróir - Gan Riosca
🟡 N/CNM-BC
Iompróir - Gan Riosca
❌ CNM-BC/CNM-BC
Isteach - I mBaol

Ceisteanna Coitianta: an léirmhíniú a thuiscint

Cad is brí le “Soiléir”?

Ní iompraíonn an t-ainmhí an sóchán. Ní dhéanfaidh sé an galar a fhorbairt agus ní chuirfidh sé ar aghaidh é.

An bhfuil “Iompróir” dáiríre?

Tá an t-ainmhí sláintiúil go ginearálta ach is féidir leis an sóchán a tharchur chuig a sliocht.

Cad a tharlaíonn má “Cuirtear isteach” ar ainmhí?

Tá dhá chóip mutated ar iompar aige. Táthar ag súil le comharthaí cliniciúla ag brath ar an galar. Níor chóir é a phóraítear.

Cén fáth a bhfuil difríochtaí idir fireannach/baineann?

Tá roinnt galair ceangailte le gnéas, mar sin athraíonn a léiriú ag brath ar an gnéas ainmhí.



Sliocht a thuar

N/N (neamh-iomproir)
N/CNM-BC (Iompróir)
CNM-BC/CNM-BC (Difear)

Ceisteanna Coitianta maidir le Tástáil DNA

Cad a bhraitheann an tástáil DNA seo?

This DNA test detects the mutation associated with Centronuclear Myopathy In Border Collie (CNM) in order to identify clear, carrier, or at-risk animals.

Cén fáth tástáil a dhéanamh ar ainmhí pórúcháin?

Cuidíonn tástáil DNA le póraitheoirí cúplála níos sábháilte a phleanáil agus an baol go dtarchuirfear an sóchán chuig an sliocht a laghdú.

Cad é modh oidhreachta na tástála seo?

Is é Autosomal Recessive an modh oidhreachta a thuairiscítear don tástáil seo.

Cén sóchán a ndéantar anailís air sa triail seo?

This test analyses the mutation DNM2 c.1393C>T.

An gá go gcuirfí isteach ar ainmhí iompróra?

Ní gá. Braitheann an léirmhíniú ar an bpatrún oidhreachta agus ar an géinitíopa dá bharr.


Tagairtí

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.

Níos mó ná 1400 marcóir géiniteach thar ilspeicis

Déan iniúchadh ar bhunachar sonraí fairsing de bhreis is 1,400 marcóir géiniteach bailíochtaithe a chlúdaíonn madraí, cait agus capaill. Bunús cumhachtach le haghaidh diagnóisic tréidliachta agus cinntí póraithe freagracha.

Bunachar Sonraí Marcála Géiniteacha Iomlán

Faigh rochtain ar bhunachar sonraí de mharcóirí géiniteacha cuimsitheach agus sainchoimeádta, lena n-áirítear comharthaí cliniciúla, cineálacha cur chuige diagnóiseacha, roghanna teiripeacha, sonraí sócháin, tagairtí eolaíocha, pórtha aitheanta, agus tréithe sócháin.

Uirlisí Géiniteacha Casta le haghaidh Cinntí maidir le Pórú Níos Cliste

Cinntí eolasacha a dhéanamh le huirlisí géiniteacha cumhachtacha atá deartha chun riosca galair a mheas, oidhreacht dath an chóta a thuar, comhéifeachtaí ionphóraithe a ríomh, tuismíocht a fhíorú, agus torthaí sliocht a shamhaltú.

Anailís Ardchaighdeáin le Slánúchán Mear

Tairbhe a bhaint as ardanailís saotharlainne a sheachadann torthaí géiniteacha iontaofa agus beachta laistigh de 1 go 2 sheachtain. Cinntíonn ár sreafaí oibre sruthlínithe agus ár bprótacail bhailíochtaithe éifeachtúlacht gan cur isteach ar dhéine eolaíoch.

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Centronuclear Myopathy In Border Collie (CNM)
Centronuclear Myopathy In Border Collie (CNM) - MyLabDNA
Discover Centronuclear Myopathy (CNM) in Border Collies. Learn about DNA testing, symptoms, and health management for your dog.
Centronuclear Myopathy In Border Collie (CNM)
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Centronuclear Myopathy In Border Collie (CNM) - MyLabDNA
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Discover Centronuclear Myopathy (CNM) in Border Collies. Learn about DNA testing, symptoms, and health management for your dog.
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