Phenotypes
Limber legs
No summary available.
Limbs, curved
No summary available.
Lipid malabsorption, ACSL5-related — Haplotype with homozygous deficiency BH34
Häfliger et al. (2021) investigated “the two Braunvieh populations reared in Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We performed a genome-wide analysis of array data of trios (sire, dam, and offspring) from the routine genomic selection to identify candidate regions showing missing homozygosity and phenotypic associations with five fertility, ten birth, and nine growth-related traits. In addition,...
Lipidosis, hepatic — fatty liver
No summary available.
Lipofuscinosis — Black kidney
"Affected animals are identified at slaughter by their discolored kidneys, justifying the more common designation of 'black kidney disease'. RL is not accompanied by gross renal dysfunction, yet it may cause more insidious deleterious effects, as evidenced by a reduced longevity of affected animals." (Charlier et al., 2008)
Lipomatosis, multiple — congenital lipomatosis; congenital infiltrative lipomatosis; infiltrative lipoma
No summary available.
Lissencephaly, generic
Some references listed here were previously listed under OMIA:001867
Ljutikow's lethal
No summary available.
Lymphocyte intestinal retention defect — Bovine lymphocyte intestinal retention defect, BLIRD
Besnard et al. (2023) "present a data-mining framework designed to detect recessive defects in livestock that have been previously missed due to a lack of specific signs, incomplete penetrance, or incomplete linkage disequilibrium. This approach leverages the massive data generated by genomic selection. Its basic principle is to compare the observed and expected numbers of homozygotes for sliding haplotypes in animals with different life histo...
Lymphoedema — Inherited (congenital) lymphedema
Inherited primary lymphoedema has been reported in several breeds including Ayrshire, Hereford and Japanese black cattle (Donald et al., 1952; Morris et al., 1954; Schild et al., 1991; Yamaguchi et al., 1995). A defect of the lymphatic system causes chronic oedema, particularly of the extremities and hindlimbs. In Hereford cattle the lower limbs and extremities appear to be most affected in a clinical presentation similar to that observed in h...
Lymphoma, B-cell, susceptibility to
No summary available.
Lysosomal storage disease
No summary available.
Male subfertility
Hiltpold et al. (2000, 20021) report several candidate genes and propose likely causal variants with an impact on male fertility in Brown Swiss cattle. Abdollahi-Arpanahi et al.(2021) "identified a set of high-impact mutations in low-fertility bulls, including nonsense, missense, and frameshift variants. Some of these mutations may be considered as strong candidate causal variants for bull subfertility.... Genes affected by these candidate caus...
Male subfertility, AK9-related
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."
Male subfertility, EML5-related
Nogueira et al. (2022) "A rare SNP, predicted to be deleterious was discovered within a conserved WD40 domain repeat-encoding region ... of the bovine autosomal ... EML5 gene ... in an Angus bull ... with low fertility." The authors "demonstrate that this mutant allele is present in many breeds world-wide."