Health

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.

Ovine hereditary chondrodysplasia (spider lamb syndrome) is a semi-lethal inherited disorder associated with skeletal deformities in young sheep.

Chronic wasting disease (CWD) is a fatal transmissible spongiform encephalopathy of elk and other cervids in North America. A natural mutation in the prion protein gene in elk has been found to affect susceptibility to CWD and disease progression.

Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia caused by insufficient activity of its namesake regulatory enzyme.

Progressive retinal atrophy (PRA) causes an autosomal recessive blindness in Bengal cats by destroying the cells in the back of the eye that register light.