What follows is a list of genetic defects and the breeds known to be affected. These mutations have been identified over the past 10 plus years by scientists around the world. Researchers were able to identify these mutations because breeders, breed associations, veterinarians, and extension stepped up to the plate and provided samples and pedigrees.
Back in the days of the Hereford dwarf or the Galloway TH or the Dexter dwarf - carriers were identified by test mating and sometimes abortion and necropsy. Today we have the tools and the researchers to identify mutations in a much faster way with far fewer samples than we needed even back in the TH and PHA days. Knowing the human and mouse and bovine and swine and dog genome provides information about where mutations are located in other species making it easier to hunt mutations in other species.
Now you can play ostrich and stick your head in the sand and use the age old SSS or you can be proactive and supply samples and pedigree from defective calves. But being an ostrich won't prevent scientific progress or the identification of defects....on the horizon the MB mutation in black Angus, FCS, "itty bitty", spastic paresis...
Tibial Hemimelia – Shorthorn (2 mutations), Galloway (unknown mutation)
Pulmonary Hypoplasia with Anasarca – Maine-Anjou, Dexter (different mutations) – one report in Hereford
Idiopathic Epilepsy - Hereford
Dwarf, Long-Nosed – Angus
Dwarf, bulldog – Dexter
Dwarf, chondrodysplastic – Japanese Brown
Double Muscling – many breeds
Bovine Leukocyte Adhesion Defect – Holstein
Citrullinaemia – Holstein
Complex Vertebral Malformation - Holstein
Syndactaly (mule foot) – Holstein, Angus, Simmental (at least 2 mutations)
Protoporphyria – Limousin
Chediak-Higashi Syndrome – Japanese Black
Congenital Pseudomyotonia - Italian Chianina
Congenital Muscular Dystony, type 1 - Belgian Blue
Factor XI Deficiency – Holstein, Japanese Yellow (2 mutations)
“Hydro” – Angus (note hydrocephalus is caused by other things; 1 mutation identified to date)
Marble bone (osteopetrosis) – Red Angus (mutation identified); black Angus
Arthrogryposis multiples - Angus; similar defect identified in Charolais - mutation unknown
Back in the days of the Hereford dwarf or the Galloway TH or the Dexter dwarf - carriers were identified by test mating and sometimes abortion and necropsy. Today we have the tools and the researchers to identify mutations in a much faster way with far fewer samples than we needed even back in the TH and PHA days. Knowing the human and mouse and bovine and swine and dog genome provides information about where mutations are located in other species making it easier to hunt mutations in other species.
Now you can play ostrich and stick your head in the sand and use the age old SSS or you can be proactive and supply samples and pedigree from defective calves. But being an ostrich won't prevent scientific progress or the identification of defects....on the horizon the MB mutation in black Angus, FCS, "itty bitty", spastic paresis...
Tibial Hemimelia – Shorthorn (2 mutations), Galloway (unknown mutation)
Pulmonary Hypoplasia with Anasarca – Maine-Anjou, Dexter (different mutations) – one report in Hereford
Idiopathic Epilepsy - Hereford
Dwarf, Long-Nosed – Angus
Dwarf, bulldog – Dexter
Dwarf, chondrodysplastic – Japanese Brown
Double Muscling – many breeds
Bovine Leukocyte Adhesion Defect – Holstein
Citrullinaemia – Holstein
Complex Vertebral Malformation - Holstein
Syndactaly (mule foot) – Holstein, Angus, Simmental (at least 2 mutations)
Protoporphyria – Limousin
Chediak-Higashi Syndrome – Japanese Black
Congenital Pseudomyotonia - Italian Chianina
Congenital Muscular Dystony, type 1 - Belgian Blue
Factor XI Deficiency – Holstein, Japanese Yellow (2 mutations)
“Hydro” – Angus (note hydrocephalus is caused by other things; 1 mutation identified to date)
Marble bone (osteopetrosis) – Red Angus (mutation identified); black Angus
Arthrogryposis multiples - Angus; similar defect identified in Charolais - mutation unknown
