Phenotypes

Also known as Ellis-van Creveld Syndrome

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]

No summary available.

In an extensive study involving exome capture and next-gen sequencing, McClure et al. (2014) were not able to discover any potentially causal variant for haplotype HH2. Yang et al. (2021): "Short- and long-read WGS was performed on four carriers and four non-carriers of HH2 to screen for variants in concordance with HH2 haplotype status.Sequence variation analysis revealed five putative functional variants of protein-coding genes, including a...

By comparing whole-genome sequenced data (from 2 affecteds and one control) in the candidate region (see Mapping section), and filtering resultant candidate variants, Duchesne et al. (2018) narrowed the field down to "a single substitution in exon 5 of KIF1C (chr19:27041449 C/T). For easier comprehension and since KIF1C gene in cattle is on the reverse strand, the substitution will be referred as KIF1C G>A in order to match with the transcr...

Häfliger et al. (2020): "Variant calling and filtering against the 1000 Bull Genomes variant catalogue resulted in the detection of a single homozygous protein-changing variant exclusively present in both sequenced genomes. This single-nucleotide deletion in exon 3 of IL17RA on bovine chromosome 5 was predicted to have a deleterious impact on the encoded protein due to a frameshift leading to a truncated gene product."

O’Callaghan et al. (2023) "present a detailed phenotypic and molecular characterization of an intronic variant in cattle that activates cryptic splicing of the adenylate kinase 9 (AK9) gene resulting in extreme subfertility associated with impaired sperm hyperactivation, failure of oocyte binding/penetration, and low frequency of embryo development culminating in severely compromised field fertility."

Jacinto et al. (2022): "Whole-genome sequencing [of the affected calf and its sire and dam] revealed . . . a private X-linked variant in the PLP2 gene (chrX:87216480C > T; c.50C > T), which was present only in the genomes of the case (hemizygous) and his mother (heterozygous). It was absent in the sire as well as in 5365 control genomes. The identified missense variant exchanges the encoded amino acid of PLP2 at position 17 (p.Thr17Ile),...

The double-muscle trait in cattle is characterised by an increase in muscle mass of approx 20%, resulting in substantially higher meat yield, a higher proportion of expensive cuts of meat, and lean and very tender meat, for which a substantial premium is paid. The trait is autosomal recessive, and the locus has been given the symbol mh. It occurs at such a high frequency in Piedmontese and Belgian Blue cattle that it is characteristic of these...

By examining three comparative positional candidate genes from their mapping results (see Mapping section), Krebs et al. (2007) reported strong evidence that this disorder in cattle is due to a mutation in "FVT1, encoding 3-ketodihydrosphingosine reductase, which catalyzes a crucial step in the glycosphingolipid metabolism". Specifically, the mutation is "a G-to-A missense mutation that changes Ala-175 to Thr". Interestingly, the FVT1 gene, of...