Phenotypes
Amastia, congenital
Jacinto et al. (2022) reported that "Whole genome sequencing (WGS) was performed using genomic DNA obtained from ear tissue from the [affected] calf. . . . Variant filtering did not reveal any private homozygous protein-changing variants present in the genome of the affected calf, making a possible recessive inheritance unlikely. Assuming that a spontaneous mutation affecting a protein-coding gene is the cause, filtering for private heterozygo...
Amelia
No summary available.
Amelia, RSPO2-related — Tetradysmelia
Becker et al. (2020) "detected a 50-kb deletion in the targeted chromosomal region that was in the heterozygous state in the cases’ sire" in whole genome sequencing data and "confirmed that this detected deletion segregated perfectly within the family with tetradysmelia. The deletion spanned three exons of the bovine R-spondin 2 (RSPO2) gene, which encode three domains of the respective protein."
Amorphus globosus
No summary available.
Amputated
No summary available.
Amyloidosis, AA
No summary available.
Amyloidosis, renal
No summary available.
Anaemia, congenital dyserythropoietic
No summary available.
Androgen insensitivity syndrome (AIS)
No summary available.
Anencephaly/Exencephaly
No summary available.
Aneuploidy, generic
No summary available.
Aneuploidy, monosomy, autosomal
No summary available.
Aneuploidy, monosomy, sex chromosome
No summary available.
Aneuploidy, trisomy, autosomal
See also for additional details:OMIA:003022-9913 : Craniofacial dysplasia-hydrocephalus-dwarfism syndrome in Bos taurus (taurine cattle) - Trisomy 23OMIA:000147-9913 : Brachygnathia in Bos taurus (taurine cattle)
Aneuploidy, trisomy, sex chromosome XXX
No summary available.