Health

Spinal muscular atrophy (SMA) is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs.

Progressive ataxia (PA) of Charolais cattle is an inherited neurodegenerative disease affecting the hind limbs that can gradually progress until the affected animal is unable to stand.

Cholesterol deficiency (CD) is a recessive genetic disorder in Holstein cattle that affects lipid metabolism and causes young calves to die as a consequence of chronic diarrhea and failure to thrive.

Bulldog dwarfism is a lethal genetic defect of Dexter cattle. Affected fetuses have severe disproportionate dwarfism, a short vertebral column, a large head, and are naturally aborted around seven months of gestation. The two known mutations are specific to Dexter cattle and may be present in Dexter crossbreds.

Pulmonary hypoplasia with anasarca (PHA) is a lethal genetic defect characterized by incomplete development of the lungs and severe subcutaneous fluid accumulation, leading to abortion or the birth of a dead calf.

Paunch calf syndrome (PCS) is an inherited lethal defect of Romagnola cattle characterized by abnormal development of multiple organs, craniofacial deformities, an enlarged fluid-filled abdomen, and liver fibrosis. Affected calves are usually stillborn.

Congenital pseudomyotonia (PMT) is a recessive genetic defect seen in Chianina and Romagnola cattle that impairs muscle function and is characterized by exercise-induced muscle cramping.

Bulldog dwarfism is a lethal genetic defect of Miniature Zebu cattle. Affected fetuses have disproportionate dwarfism, a short and compressed vertebral column, a large head, short, stocky limbs, and are naturally aborted around seven months of gestation. The mutation that causes this defect is specific to Zebu cattle and is different from the Dexter mutations.

Scrapie is a fatal, infectious neurodegenerative prion disease that affects sheep and goats. Natural mutations in the prion protein gene of sheep and goats have been identified which confer susceptibility or resistance to scrapie.

G6-Sulfatase deficiency is an inherited autosomal recessive metabolic defect that occurs in Nubian goats and related crosses. Affected goats exhibit delayed motor development, growth retardation, and early death.