Genetic defects
CMDI: Congenital muscular dystonia I
- Lethal within days around birth
- Default in muscular relaxation
- Mutation identified, direct test proposed
CMD2: Congenital muscular dystonia II
- Lethal within hours around birth
- Default in neuro-muscular relaxation
- Mutation identified, direct test proposed
CTS: Crooked Tail Syndrome
- Not lethal per se but > 25% euthanized on welfare grounds
- Growth retardation, stocky head, extreme muscular development, scoliosis, spastic paresia: economic losses
- Two mutations identified in the same gene: combined direct test proposed to detect both mutations
DW: Proportionated Dwarfism
- Decreased resistance to infections
- Not lethal per se but 40% died before 1 year from recurrent infections
- The remaining 60% are severely growth retarded and culled for health related reasons: economic losses
- Mutation identified, direct test proposed
HAM: Gingival hamartoma and osteopetrosis
- Lethal around birth, some can survive a few weeks
- Complications during parturition, cows often culled
- Vascular mass (1 to 15 cm) in the mouth, abnormal skull shape
- Blindness
- No bone marrow cavity in the long bones (osteopetrosis)
- Mutation identified, direct test proposed
PG: Prolonged Gestation
- Parturition fails to occur, upon medical induction, calves are born alive but die within hours
- Gestation can last up to 14 months
- Mutation localised, indirect test proposed
AP: Arthrogryposis and cleft Palate
- Lethal before birth
- Arthrogrypose, cleft palate, blindness, umbilical hernia
- Complications during parturition, cows often culled
- Mutation localised, indirect test proposed
SNAPC4
- embryonic mortality between 3. - 16. week of pregnancy
Protruding Tongue: Research is still being undertaken on this condition and, as yet, it is NOT confirmed as a defect caused by genetics, there may be other health issues that lead to these symptoms.