Phenotypes

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Ojo et al. (1975) reported two Angus calves with facial hypoplasia with a single nasal cavity and a shortened upper jaw, syndactyly of all four feet and kyphoscoliosis. Both calves died within three hours of birth.

Agerholm et al. (2017): "whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predic...

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In a conference abstract, Haton et al. (2000) reported that, by cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), they had identified a 76-bp insertion in exon 12 of the Factor XI gene as being causative of Factor XI deficiency in Holstein cattle. This discovery was fully described by Marron et al. (2004) who explained that "This insertion introduces a stop codon that results in a mature ...

Shibutani et al. (2023) list a causal variant for F13 deficiency in Japanese Black cattle in the F13A1 gene as BTA23:g.48649432T>C, c.248T>C; p.F83S based on the publication by Ogawa and Iga (1996). Matsumoto et al. (2023) detected this variant in the Kumamoto sub-breed of Japanese Brown cattle.

Burgstaller et al. (2016) have provided strong evidence that the FH2 frameshift mutation (see OMIA 001958-9913), namely c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2, is actually causative of Fanconi-Bickel syndrome in Fleckvieh cattle. Joller et al. (2018) reported the same likely causal variant in a Swiss Braunvieh calf.

Su et al. (2025) "created fatty acid desaturase 3 (Fad3) transgenic cattle by utilizing CRISPR-Cas9 technology to insert a codon-optimized Fad3 gene sequence into bovine fibroblast cells and employing somatic cell nuclear transfer (SCNT) technology. Gas chromatographic analysis confirmed that the n-3 PUFA (polyunsaturated fatty acid) content in the transgenic cattle was significantly increased, while the ratio of n-6 PUFAs to n-3 PUFAs decreas...

see also OMIA:001022-9913 : Twinning in Bos taurus and OMIA:002675-9913 : Fecundity, SMAD6-related in Bos taurus

Constantino et al. (2023): "The bovine high fecundity allele, Trio, causes overexpression in granulosa cells of SMAD6, an inhibitor of BMP15-activated SMAD signalling. Furthermore, the Trio allele results in antral follicles that develop slower, acquire ovulatory capacity at smaller sizes, and have 3-fold greater ovulation rate compared to half-sib non-carriers."

This phene includes references to studies involving gene edited or genetically modified organisms (GMO).

Tremors and astasia, as a consequence of hypoplasia of the forelimb-girdle muscles

Braun et al. (2021): "Filtering whole genome sequencing data revealed a private frameshift variant within the candidate gene ZIC2 in the affected calf. . . . A 1-bp deletion (g.80722845TC>T; ARS-UCD1.2:g.76742066TC>T) in exon 4 of the candidate gene ZIC2 . . . was heterozygous in the affected calf and homozygous wild type in both parents and all other Limousin herdmates and private controls. . . . The origin of this variant is most likel...