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Dog DNA testing illustration

Dental-Skeletal-Retinal Anomaly (DSRA)

Code: H974

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Dental-Skeletal-Retinal Anomaly (DSRA) is a developmental disorder found in the Cane Corso, which causes brittle teeth, disproportionate growth and vision loss.

General information

Dental-Skeletal-Retinal Anomaly (DSRA) is a developmental disorder found in the Cane Corso, which causes brittle teeth, disproportionate growth and vision loss. The disorder is caused by a recessive mutation to the gene MIA3.

Specifications

Breeds

Cane Corso
Gene

MIA3
Chromosome

38
Mutation

c.3822+3_3822+4del
Organ

Digestive System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

DSRA

Clinical features

Affected puppies develop distinctively translucent, brown-discoloured teeth. They also grow shorter than their littermates, with disproportionately short and crooked forelegs. The disease also results in progressive retinal atrophy (PRA): degradation of the retinas resulting in a gradual loss of vision.

References

Pubmed ID: 34680893

Year published: 2021

Omia ID: 2465

Omia variant ID:

Turnaround information

  • 15 working days