Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609199 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Species-specific name: Fawn calf syndrome

Mapping: In a conference paper, Tammen et al. (2011) reported that CA was mapped to bovine chromosome 21 in a target region of ~3.4 Mb.

Molecular basis: In a conference paper, Denholm et al. (2014) reported that "The causal mutation in CA was identified as a large (~58 kilobase pair) deletion affecting the ADAMTSL3 gene on bovine chromosome 21."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: A summary of current knowledge of this disorder in Australia is provided by Denholm (2010). Information on the disorder in the USA is available from http://www.angus.org/pub/CA/CAInfo.aspx. In a corrigendum to Windsor et al. (2011), Windsor et al. (2012) stated "Readers should note that although contractural arachnodactyly or fawn calf syndrome has been included in the table of neurogenetic disorders of cattle, current evidence (as explained in the text on arthrogryposis) suggests that it is most probably not a primary neuropathy but a myopathy. It was included in the table as it emerged as a differential diagnosis for arthrogryposis in neonatal Angus and Murray Grey calves and their crosses."

Genetic testing: A DNA test has been developed by Dr Jon Beever, Dept of Animal Sciences, University of Illinois.

Breed: Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: