Information about ACAN related dwarfism in Bos indicus cattle was previously listed here and was moved to 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' [19/06/2023]
OMIA ID:1271Inheritance: 4Characterised: YesYear: 2007
This was one of the first inherited lysosomal storage disorders to be studied extensively in animals. The pioneering work was done by Jolly and colleagues at Massy University in New Zealand, who developed an enzyme assay that enabled carriers to be distinguished from homozygote normals with a high degree of accuracy (Jolly et al., 1973). More than twenty years later, following the cloning and characterisation of the human gene for alpha mannos...
OMIA ID:625Inheritance: The inherited form of this disorder is a classic autosomal recessive inborn e...Characterised: YesYear: 1997
In a remarkable indication of the power of modern genomic tools, Hofstetter et al. (2017) reported a novel form of curly coat in a single Brown Swiss calf, the offspring of two normal-coated parents. By whole-genome sequencing of the calf and its sire and dam, followed by informed interrogation of the sequence data (as described below), these authors were able to identify a likely causal variant in a gene which, when mutated in humans, gives r...
OMIA ID:2109Inheritance: As reported by Hofstetter et al. (2017), the absence of the variant in both p...Characterised: YesYear: 2017
