In other species: dog , domestic cat , goat , springbok

Categories: Lysosomal storage disease

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 248510 (trait) , 609489 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1999

Species-specific description: Abbitt et al. (1991) reported that bovine beta-mannosidosis, a lysosomal storage disease, is caused by a deficiency of beta-mannosidase. Affected neonatal calves are unable to rise with intention tremors, hidebound skin, slightly domed calvaria, slight prognathism, and narrow palpebral fissures. Their postmortem findings included variable dilatation of the lateral cerebral ventricles, marked pallor and paucity of white matter of the cerebrum and cerebellum, and mild to marked bilateral renomegaly. Lovell et al (1991) reported that in bovine beta-mannosidosis, the thyroid in the affected newborn shows marked cytoplasmic vacuolation, with an associated reduction in the serum concentrations of thyroxine and tri-iodothyronine (Mohammad Shariflou 3/11/2006).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Leipprandt et al. (1999) reported a G to A transition at position 2574 of the cDNA coding sequence of the MANBA gene, resulting in a premature stop codon near the 3' end of the coding region. They described a PCR test for detecting this mutation (Mohammad Shariflou 3/11/2006; FN 15/9/2012).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Salers (Cattle) (VBO_0000366).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: