Swedish Researchers Uncover Genetic Cause of Dwarfism in Dalmatians

Researchers at SLU identify a recessive genetic mutation causing dwarfism in Dalmatians using decades-old blood samples, enabling a new DNA test for breeders.

    Key details

  • • Researchers at SLU solved the genetic cause of hereditary dwarfism in Dalmatians.
  • • Discovery stemmed from rediscovered blood samples stored for over 30 years.
  • • Mutation is recessive, requiring both parents to carry it to affect puppies.
  • • A DNA test has been developed to help breeders prevent the condition.

Swedish scientists at the Swedish University of Agricultural Sciences (SLU) have resolved a decades-old mystery surrounding hereditary dwarfism in Dalmatian dogs, a condition causing severe mobility problems and pain. This breakthrough originated from blood samples collected in the 1990s, which were rediscovered in a university freezer after a dog breeder's inquiry triggered new research.

Led by molecular geneticist Tomas Bergström, the team identified a recessive genetic mutation responsible for the disease. Their findings, published in 2025, confirmed that both parents must carry the mutated gene for the offspring to exhibit dwarfism. To further understand the condition, researchers reviewed old VHS footage of affected dogs and consulted veterinarians for additional samples and X-rays.

The discovery has led to the development of a DNA test that breeders can use to prevent the condition, offering relief to breeders like Inger Hagbohm who have previously dealt with afflicted litters. Beyond canine health, the team noted that similar genetic mutations have been observed in rare human cases, suggesting possible wider implications for understanding skeletal diseases.

This achievement not only offers practical tools for dog breeding but also enhances knowledge about genetic skeletal disorders, highlighting the importance of long-term sample preservation and interdisciplinary investigation in veterinary genetics.

This article was translated and synthesized from Swedish sources, providing English-speaking readers with local perspectives.

Source comparison

Researcher title

Sources report different titles for Tomas Bergström

aftonbladet.se

"The team, led by molecular geneticist Tomas Bergström, discovered a mutation in a specific gene responsible for the condition."

svd.se

"Tomas Bergström, an associate professor in molecular genetics and bioinformatics, reported that they found these samples stored at the bottom of a university freezer."

Why this matters: One source refers to Tomas Bergström as a molecular geneticist, while the other describes him as an associate professor in molecular genetics and bioinformatics. This discrepancy may affect the perceived authority and expertise of the individual leading the research.

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