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H090

Hypothyroidism and Dwarfism in the Rottweiler is a heritable disorder caused by an autosomal recessive mutations in the Thyroglobulin (TG) gene.

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Specifications

Breeds

Gene

Chromosome

13

Mutation

c.3694C>T

Organ

Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Autosomal Recessive

General information

Hypothyroidism and Dwarfism in the Rottweiler is a heritable disorder caused by an autosomal recessive mutations in the Thyroglobulin (TG) gene. Thyroglobulin is a key protein involved in the production of thyroid hormones, which regulate growth, development and metabolism. Mutations in the TG gene can impair thyroid hormone synthesis, resulting in congenital hypothyroidism. In affected dogs, inadequate thyroid hormone levels during development lead to impaired growth and skeletal abnormalities.

Clinical features

Clinical signs typically become apparent during puppyhood as affected dogs fail to grow at a normal rate. Common features include disproportionate dwarfism, shortened limbs, delayed skeletal development, and reduced overall body size compared to unaffected littermates. Additional signs associated with hypothyroidism may include lethargy, mental dullness, weakness, poor coat quality, delayed tooth eruption, and intolerance to cold temperatures. Without appropriate management, affected dogs may develop progressive musculoskeletal abnormalities and experience a significantly reduced quality of life.

Additional information

References

Pubmed ID: 42173671

Year published: 2026

Omia ID: 3059

Omia variant ID:

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.