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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 13 |
| Mutation | c.3694C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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
Références
Pubmed ID: 42173671
Year published: 2026
Omia ID: 3059
Omia variant ID: 1903