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Cat DNA testing illustration

Osteogenesis Imperfecta (OI) – Cat

Code: K402

74,72 €

Sample details

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

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Short description

Osteogenesis Imperfecta (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones.

General information

Osteogenesis Imperfecta (OI), sometimes known as Brittle Bone Disease, is a group of skeletal disorders that result in the growth of weakened, fragile teeth and bones. This variant of the disease has been observed in a Japanese domestic cat, and is likely caused by a recessive mutation to the gene CREB3L1.

Specifications

Breeds

All Breeds
Gene

CREB3L1
Chromosome

D1
Mutation

c.370_371delTG
Organ

Skeletal system
Specimen

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

Autosomal Recessive
Also known as

OI

Clinical features

Affected kittens present with stunted growth, curved limbs, abnormal gait, and possibly constipation due to pelvic stenosis. The resulting complications can be life-threatening.

References

Pubmed ID: 35168412

Year published: 2022

Omia ID: 2533

Omia variant ID:

Turnaround information

  • 15 working days