Categories: Mortality / aging (incl. embryonic lethal) , Muscle phene

Single-gene trait/disorder: unknown

Disease-related: yes

Species summary: Stegemiller et al. (2025) report a novel semi-lethal disease in newborn Polypay lambs.

Mapping: Stegemiller et al. (2025): "The genome-wide association study identified a region of chromosome 15 with three significant SNPs ... . Genetic analysis identified a run of homozygosity on the same region of chromosome 15 with an odds ratio of 236.7. Fine mapping of this region identified three haploblocks associated with the dozer lamb syndrome (p-value = 2.41 × 10⁻⁵)."

Clinical features: Stegemiller et al. (2025) : "Affected Polypay newborn lambs have difficulty lifting their heads ..., struggle to suckle and swallow, and often have nasal reflux of milk in the absence of a cleft palate ... . Phenotypic characteristics can include a short neck and ears, curvature or a dip in the spine (scoliosis or kyphosis), and contracted front legs ... . Lambs often perish from malnutrition, develop aspiration pneumonia, or are euthanized due to failure to thrive."

Breed: Polypay (Sheep) (VBO_0001560).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).