Search Phenotypes

Muscle weakness, CACNA1S-related — Recumbency

Al-Khudhair et al. (2024) report a variant in the CACNA1S gene (rs3423414874) as likely causal variant for this condition.

OMIA ID: 2819Inheritance: likely to be autosomal recessive with incomplete penetranceCharacterised: YesYear: 2024

Muscular hypertrophy (double muscling) — Double muscling; “culón”; horse rump

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...

OMIA ID: 683Inheritance: 1Characterised: YesYear: 1997

Myasthenia

No summary available.

OMIA ID: 684Inheritance: N/ACharacterised: NoYear: N/A

Myasthenic syndrome, congenital, CHRNE-related

Redundant - information about congenital myasthenic syndrome in Brahman cattle was moved to OMIA:000685-9915 : Myasthenic syndrome, congenital, CHRNE-related in Bos indicus [08/10/2023]

OMIA ID: 685Inheritance: N/ACharacterised: NoYear: N/A

Myeloencephalopathy, progressive degenerative, PNPLA8-related — Weaver syndrome; Haplotype BHW; bovine degenerative progressive myeloencephalopathy

Kunz et al. (2016) reported a likely causal mutation as "a missense mutation (p.S568N, c.G1703A; [Chr4: 49,878,773 bp, rs800397662]) in the PNPLA8 gene that encodes patatin-like phospholipase domain containing 8".

OMIA ID: 827Inheritance: 5Characterised: YesYear: 2016

Myoclonus epilepsy of Lafora

No summary available.

OMIA ID: 690Inheritance: N/ACharacterised: NoYear: N/A

Myopathy of the diaphragmatic muscles

From a BAC contig encompassing the candidate region of the bovine MHC (see Mapping section above), Sugimoto at al. (2003) determined that this disorder in Holstein-Friesian cattle is due to the deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex.

OMIA ID: 1319Inheritance: 5Characterised: YesYear: 2003

Myositis ossificans

No summary available.

OMIA ID: 697Inheritance: N/ACharacterised: NoYear: N/A

Myotonia

No summary available.

OMIA ID: 698Inheritance: N/ACharacterised: NoYear: N/A

Nasolacrimal duct obstruction — Also known as nasolacrimal duct fistula or lacrimal fistula.

Previously listed in OMIA as OMIA:001693-9913 : Lacrimal fistula in Bos taurus (taurine cattle) [06.05.2024]

OMIA ID: 2852Inheritance:  With the incidence of this disorder differing substantially in the offspring...Characterised: NoYear: N/A

Necrotising encephalopathy, subacute, of Leigh

Characterised by abnormal mitochondria, this disorder could be due to mutation(s) in mitochondrial DNA.

OMIA ID: 1097Inheritance: N/ACharacterised: NoYear: N/A

Neoplasm, generic

No summary available.

OMIA ID: 2587Inheritance: N/ACharacterised: NoYear: N/A

Neospora caninum infection, susceptibility/resistance to

No summary available.

OMIA ID: 2828Inheritance: 10Characterised: NoYear: N/A

Neuroaxonal dystrophy, generic

No summary available.

OMIA ID: 715Inheritance: N/ACharacterised: NoYear: N/A

Neurocristopathy

Bourneuf et al. (2017): a de novo likely causal variant is the frameshift variant p.K594AfsX29

OMIA ID: 2125Inheritance: 3Characterised: YesYear: 2017