O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Cachorro Acromatopsia tipo 2 em pastor alemão (ACHM2-GS)
Achromatopsia Type 2 is a genetic condition that affects German Shepherds, leading to color vision deficiencies and potential vision impairment. DNA testing for this condition is crucial for responsible breeding practices, ensuring that potential puppies are screened for this hereditary issue. By identifying carriers of the gene, breeders can make informed decisions to reduce the prevalence of Achromatopsia Type 2 in the breed. Early detection through DNA tests not only aids in better health management but also contributes to the overall well-being of German Shepherds. If you're a breeder or dog owner, consider investing in a DNA test for Achromatopsia Type 2 to promote healthier litters. Protect your beloved German Shepherd by understanding their genetic health risks today!
Abreviatura: ACHM2-GS
Mutação analisada: CNGA3 c.1270C>T
Herança: Autossômico Recessivo
Acrônimo
ACHM2-GS
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Oftalmológicas
Mutação analisada
CNGA3 c.1270C>T
p.(R424W)
p.(R424W)
Modo de herança
Autossômico Recessivo (Completo)
Resumo do teste:
Achromatopsia Type 2 is a genetic condition in German Shepherds that affects their ability to perceive colors, rendering them essentially colorblind. This condition is caused by mutations in the CNGB3 gene, which plays a critical role in the functioning of retinal cells. A DNA test can identify carriers of this mutation, helping breeders make informed decisions to reduce the prevalence of the disorder. Affected dogs may also experience sensitivity to bright light and reduced visual acuity. Early detection through genetic testing can aid in managing the condition and improving the quality of life for these dogs.
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.
Understanding Achromatopsia Type 2 in German Shepherds
Achromatopsia Type 2 is a genetic condition that affects the vision of German Shepherds, leading to a form of color blindness. This disorder is characterized by a deficiency in cone photoreceptors, resulting in an inability to perceive colors. Affected dogs typically experience a limited visual spectrum, primarily being able to see in shades of gray.
Sinais e Sintomas Clínicos
Dogs with Achromatopsia Type 2 may exhibit a range of symptoms that can impact their quality of life. Common signs include difficulty seeing in bright light, which may cause them to squint or avoid sunlight. These dogs may also show signs of anxiety or confusion in unfamiliar environments due to their compromised vision. Additionally, they may have a reduced ability to track moving objects, which can affect their overall agility and playfulness.
Genetics and Inheritance
The condition is inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for an offspring to be affected. The gene responsible for Achromatopsia Type 2 has been identified, allowing for targeted DNA testing. Identifying carriers and affected individuals through genetic testing can help breeders make informed decisions to reduce the prevalence of this condition in the breed.
Diagnosis and Management
Diagnosis of Achromatopsia Type 2 typically involves a combination of clinical examination and DNA testing. While there is currently no cure for this condition, management strategies can be implemented to enhance the quality of life for affected dogs. Providing a safe and stable environment, minimizing exposure to bright lights, and ensuring regular check-ups can help in managing the symptoms.
Conclusão
Achromatopsia Type 2 is a significant condition that can affect German Shepherds, impacting their vision and overall well-being. Understanding the genetics behind this disorder is crucial for breeders and pet owners alike, as it allows for informed decisions that can ultimately lead to healthier dogs. With proper diagnosis and management, affected dogs can lead fulfilling lives despite their visual limitations.
Raça reconhecida para o teste: Acromatopsia tipo 2 em pastor alemão (ACHM2-GS)
- American White Shepherd Dog
- German Shepherd Dog
- Shiloh Shepherd
- Swiss White Shepherd Dog
🧬 Interpretation of genotypes ACHM2-GS
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/ACHM2-GS
Transportadora - Sem Risco
❌ ACHM2-GS/ACHM2-GS
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/ACHM2-GS (Operadora)
ACHM2-GS/ACHM2-GS (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Achromatopsia Type 2 In German Shepherd (ACHM2) 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 CNGA3 c.1270C>T.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Tanaka Naoto, Dutrow Emily V, Miyadera Keiko, Delemotte Lucie, MacDermaid Christopher M, Reinstein Shelby L, Crumley William R, Dixon Christopher J, Casal Margret L, Klein Michael L, Aguirre Gustavo D, Tanaka Jacqueline C, Guziewicz Karina E. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS One. 2015 Sep 25;10(9):e0138943. doi: 10.1371/journal.pone.0138943. eCollection 2015.