OMIA 000626-9913 : Mannosidosis, beta in Bos taurus |
In other species:
dog
,
goat
,
springbok
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
248510 (trait)
,
609489 (gene)
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MANBA | mannosidase beta | Bos taurus | 6 | NC_037333.1 (22062310..22189962) | MANBA | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 297 | Salers | Mannosidosis, beta | MANBA | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.2 | 6 | g.22188765G>A | c.2574G>A | p.(W858*) | 1999 | 10594236 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2011 | Huynh, T., Khan, J.M., Ranganathan, S. : | |
| A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. BMC Genomics 12 Suppl 3:S22, 2011. Pubmed reference: 22369051. DOI: 10.1186/1471-2164-12-S3-S22. | ||
| 2002 | Jolly, R.D. : | |
| Mannosidosis in cattle and its control New Zealand Veterinary Journal 50:90, 2002. Pubmed reference: 16032247. | ||
| 1999 | Leipprandt, J.R., Chen, H., Horvath, J.E., Qiao, X.T., Jones, M.Z., Friderici, K.H. : | |
| Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes Mammalian Genome 10:1137-1141, 1999. Pubmed reference: 10594236. | ||
| 1998 | Baker, W.D., Sears, G.L. : | |
| Beta-mannosidosis in a Nebraska cow herd Compendium on Continuing Education for the Practicing Veterinarian 20:S 138 ff., 1998. | ||
| 1996 | Schmutz, S.M., Moker, J.S., Leipprandt, J.R., Friderici, K.H. : | |
| Beta-mannosidase maps to cattle chromosome 6 Mammalian Genome 7:474, 1996. Pubmed reference: 8662218. | ||
| 1995 | Anon. : | |
| SAC veterinary services - beta-mannosidosis diagnosed in imported calves Veterinary Record 137:133-135, 1995. | ||
| Chen, H., Leipprandt, J.R., Traviss, C.E., Sopher, B.L., Jones, M.Z., Cavanagh, K.T., Friderici, K.H. : | ||
| Molecular cloning and characterization of bovine beta-mannosidase Journal of Biological Chemistry 270:3841-3848, 1995. Pubmed reference: 7876128. | ||
| Healy, P.J., Dennis, J.A., Moule, J.F. : | ||
| Use of hair root as a source of DNA for the detection of heterozygotes for recessive defects in cattle Australian Veterinary Journal 72:392, 1995. Pubmed reference: 8599573. | ||
| 1993 | Bryan, L., Schmutz, S., Hodges, S.D., Snyder, F.F. : | |
| Bovine beta-Mannosidosis - Pathologic and Genetic Findings in Salers Calves Veterinary Pathology 30:130-139, 1993. Pubmed reference: 8470335. | ||
| Jones, M.Z., Abbitt, B. : | ||
| Animal Model of Human Disease - Bovine beta-Mannosidosis American Journal of Pathology 142:957-960, 1993. Pubmed reference: 8456950. | ||
| O'Toole, D., Welch, V., Redland, K., Williams, E.S. : | ||
| Ubiquitinated Inclusions in Brains from Salers Calves with beta-Mannosidosis Veterinary Pathology 30:381-385, 1993. Pubmed reference: 8212463. | ||
| Sopher, B.L., Traviss, C.E., Cavanagh, K.T., Jones, M.Z., Friderici, K.H. : | ||
| Bovine Kidney beta-Mannosidase - Purification and Characterization Biochemical Journal 289:343-347, 1993. Pubmed reference: 8424779. | ||
| Taylor, J.F., Abbitt, B., Walter, J.P., Davis, S.K., Jaques, J.T., Ochoa, R.F. : | ||
| Estimation of Genotype Distributions and Posterior Genotype Probabilities for beta-Mannosidosis in Salers Cattle Genetics 135:855-868, 1993. Pubmed reference: 8293984. | ||
| 1992 | Cavanagh, K.T., Jones, M.Z., Abbitt, B., Skinner, R. : | |
| Bovine Plasma beta-Mannosidase Activity and Its Potential Use for beta-Mannosidosis Carrier Detection Journal of Veterinary Diagnostic Investigation 4:434-440, 1992. Pubmed reference: 1457547. | ||
| Healy, P.J., Kidd, G.N., Reuter, R.E., Bunce, C., Hosie, I., Stapleton, T. : | ||
| beta-Mannosidosis in Salers Calves in Australia Australian Veterinary Journal 69:145, 1992. Pubmed reference: 1642601. | ||
| Jones, M.Z., Rathke, E.J., Gage, D.A., Costello, C.E., Murakami, K., Ohta, M., Matsuura, F. : | ||
| Oligosaccharides accumulated in the bovine beta-mannosidosis kidney. J Inherit Metab Dis 15:57-67, 1992. Pubmed reference: 1583877. DOI: 10.1007/BF01800344. | ||
| Render, J.A., Lovell, K.L., Keller, C.B., Storts, R.W., Abbitt, B., Jones, M.Z., Castenson, P.E., Hunter, J.F. : | ||
| The Ocular and Otic Pathology of Bovine Beta-Mannosidosis Journal of Veterinary Diagnostic Investigation 4:96-98, 1992. Pubmed reference: 1554780. | ||
| 1991 | Abbitt, B., Jones, M.Z., Kasari, T.R., Storts, R.W., Templeton, J.W., Holland, P.S., Castenson, P.E. : | |
| beta-Mannosidosis in 12 Salers Calves Journal of the American Veterinary Medical Association 198:109-113, 1991. Pubmed reference: 1995562. | ||
| Lovell, K.L., Jones, M.Z., Patterson, J., Abbitt, B., Castenson, P. : | ||
| Thyroid Structure and Function in Bovine beta-Mannosidosis Journal of Inherited Metabolic Disease 14:228-230, 1991. Pubmed reference: 1886407. | ||
| Patterson, J.S., Jones, M.Z., Lovell, K.L., Abbitt, B. : | ||
| Neuropathology of Bovine beta-Mannosidosis Journal of Neuropathology and Experimental Neurology 50:538-546, 1991. Pubmed reference: 1895144. | ||
| 1990 | Bryan, L., Schmutz, S., Hodges, S.D., Snyder, F.F. : | |
| Bovine Beta-Mannosidase Deficiency Biochemical and Biophysical Research Communications 173:491-495, 1990. Pubmed reference: 2260963. | ||
| Bryan, L. : | ||
| Congenital Storage Disease of Salers Calves Canadian Veterinary Journal-Revue Veterinaire Canadienne 31:303, 1990. | ||
| Jolly, R.D., Thompson, K.G., Bayliss, S.L., Vidler, B.M., Orr, M.B., Healy, P.J. : | ||
| beta-Mannosidosis in a Salers calf: a new storage disease of cattle. N Z Vet J 38:102-5, 1990. Pubmed reference: 16031588. DOI: 10.1080/00480169.1990.35628. |
Edit History
- Created by Mohammad Shariflou on 06 Nov 2006
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 01 Oct 2020