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Dog DNA testing illustration

CMR1 (Canine Multifocal Retinopathy)

Kodas: H871

74,72 €

Mėginio duomenys

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Short description

Canine multifocal retinopathy (cmr) is an ocular disorder (autosomal recessive ) characterised by multiple areas of retinal degeneration in multiple dog breeds.

General information

Canine multifocal retinopathy (cmr) is an ocular disorder (autosomal recessive ) characterised by multiple areas of retinal degeneration in multiple dog breeds.

Specifications

Breeds

Cane Corso, American Bulldog, American Bully, Australian Shepherd, Boerboel, Bullmastiff, Dogue de Bordeaux, English Mastiff, Great Pyrenees, Perro de Presa Canario

Gene

BEST1

Chromosome

18

Mutation

c.73C>T

Organ

Sensory organs

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

Also known as

cmr1

Clinical features

Signs of cmr1 develop around 13 weeks of age, and include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina. They progress as the animal ages to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation.

References

Pubmed ID: 17460247

Year published: 2007

Omia ID: 1444

Omia variant ID:

Turnaround information

  • 10 working days