OMIA:000626-9925 : Mannosidosis, beta in Capra hircus (goat) |
In other species: dog , domestic cat , taurine cattle , springbok
Categories: Lysosomal storage disease
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 248510 (trait) , 609489 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1996
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human and bovine disorder), Leipprandt et al. (1996) detected a single base deletion in the caprine MANBA (mannosidase, beta A, lysosomal) gene, resulting in a frameshift and hence premature termination, yielding a deduced peptide of 481 amino acids, compared to the normal peptide of 879 amino acids. The authors designed a PCR genotyping test which they used with success to distinguish the three genotypes at this locus.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MANBA | mannosidase, beta A, lysosomal | Capra hircus | 6 | NC_030813.1 (22343643..22463244) | MANBA | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 451 | Mannosidosis, beta | MANBA | deletion, small (<=20) | Naturally occurring variant | ARS1.2 | 6 | NC_030813.1:g.22409150del | NM_001285691.1:c.1398del | NP_001272620.1:p.W466fs | rs5334475113 | 1996 | 8921369 | The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000626-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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. | |
| 2000 | Driemeier, D., Colodel, E.M., Gimeno, E.J., Barros, S.S. : |
| Lysosomal storage disease caused by Sida carpinifolia poisoning in goats Veterinary Pathology 37:153-159, 2000. Pubmed reference: 10714644. | |
| 1997 | Lovell, K.L., Matsuura, F., Patterson, J., Baeverfjord, G., Ames, N.K., Jones, M.Z. : |
| Biochemical and morphological expression of early prenatal caprine beta-mannosidosis Prenatal Diagnosis 17:551-557, 1997. Pubmed reference: 9203214. | |
| 1996 | Leipprandt, J.R., Kraemer, S.A., Haithcock, B.E., Chen, H., Dyme, J.L., Cavanagh, K.T., Friderici, K.H., Jones, M.Z. : |
| Caprine beta-mannosidase - sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis Genomics 37:51-56, 1996. Pubmed reference: 8921369. DOI: 10.1006/geno.1996.0519. | |
| Sasaki, M., Lovell, K.L., Moller, J.R. : | |
| mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis Brain Research. Developmental Brain Research 91:131-135, 1996. Pubmed reference: 8821484. | |
| 1995 | Lovell, K.L., Sprecher, D.J., Ames, N.K., Jones, M.Z. : |
| Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis Theriogenology 44:517-527, 1995. | |
| 1994 | Lovell, K.L., Kranich, R.J., Cavanagh, K.T. : |
| Biochemical and Histochemical Analysis of Lysosomal Enzyme Activities in Caprine beta-Mannosidosis Molecular and Chemical Neuropathology 21:61-74, 1994. Pubmed reference: 8179772. | |
| 1993 | Jones, M.Z., Kennedy, F.A. : |
| Caprine beta-Mannosidosis - Aberrant Phenotype in a 5-Month- Old Euthyroid Animal Journal of Inherited Metabolic Disease 16:910-911, 1993. Pubmed reference: 8295417. | |
| Sasaki, M., Lovell, K.L., Moller, J.R. : | |
| Myelin-Associated Glycoprotein (MAG) in Myelin Deficiency of Caprine beta-Mannosidosis Brain Research 620:127-132, 1993. Pubmed reference: 7691380. | |
| 1992 | Benjamins, J.A., Nedelkoska, L., Lovell, K.L. : |
| Caprine beta-Mannosidosis - Regional Differences in Deficits of CNS Myelin Proteins Developmental Neuroscience 14:195-202, 1992. Pubmed reference: 1283736. | |
| Gage, D.A., Rathke, E., Costello, C.E., Jones, M.Z. : | |
| Determination of Sequence and Linkage of Tissue Oligosaccharides in Caprine beta-Mannosidosis by Fast Atom Bombardment, Collisionally Activated Dissociation Tandem Mass Spectrometry Glycoconjugate Journal 9:126-131, 1992. Pubmed reference: 1422131. | |
| Sopher, B.L., Traviss, C.E., Cavanagh, K.T., Jones, M.Z., Friderici, K.H. : | |
| Purification and Characterization of Goat Lysosomal beta- Mannosidase Using Monoclonal and Polyclonal Antibodies Journal of Biological Chemistry 267:6178-6182, 1992. Pubmed reference: 1556126. | |
| 1991 | Hu, P., Wenger, D.A., Vandiggelen, O.P., Kleijer, W.J. : |
| Complementation Studies in Human and Caprine beta-Mannosidosis Journal of Inherited Metabolic Disease 14:13-17, 1991. Pubmed reference: 1861455. | |
| 1990 | Boyer, P.J., Jones, M.Z., Rathke, E.J., Truscott, N.K., Lovell, K.L. : |
| Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. J Neurochem 55:660-4, 1990. Pubmed reference: 2370553. DOI: 10.1111/j.1471-4159.1990.tb04184.x. | |
| Boyer, P.J., Lovell, K.L. : | |
| Investigation of Dysmyelinogenesis in Caprine Beta- Mannosidosis - Invitro Characterization of Oligodendrocytes Glia 3:222-227, 1990. Pubmed reference: 2141598. DOI: 10.1002/glia.440030309. | |
| Lovell, K.L. : | |
| Caprine Beta-Mannosidosis - Development of Glial and Myelin Abnormalities in Optic Nerve and Corpus Callosum Glia 3:26-32, 1990. Pubmed reference: 2138133. DOI: 10.1002/glia.440030105. | |
| Pearce, R.D., Callahan, J.W., Novak, A., Little, P.B., Clarke, J.T.R. : | |
| Properties of Partially Purified Goat Kidney Beta-D- Mannosidase British Veterinary Journal 146:270-280, 1990. Pubmed reference: 2364260. | |
| Pearce, R.D., Callahan, J.W., Little, P.B., Klunder, L.R., Clarke, J.T.R. : | |
| Caprine Beta-D-Mannosidosis - Characterization of a Model Lysosomal Storage Disorder Canadian Journal of Veterinary Research-Revue Canadienne de Recherche Veterinaire 54:22-29, 1990. Pubmed reference: 2306674. | |
| 1989 | Render, J.A., Lovell, K.L., Jones, M.Z., Wheeler, C.A. : |
| Ocular Pathology of Caprine Beta-Mannosidosis Veterinary Pathology 26:444-446, 1989. Pubmed reference: 2588439. | |
| 1988 | Render, J.A., Lovell, K.L., Jones, M.Z. : |
| Otic pathology of caprine beta-mannosidosis. Vet Pathol 25:437-42, 1988. Pubmed reference: 3212889. DOI: 10.1177/030098588802500606. | |
| 1986 | Fisher, R.A., Rathke, E.J.S., Kelley, J.A., Dunstan, R.W., Cavanagh, K., Jones, M.Z. : |
| Inheritance of beta-mannosidosis in goats Animal Genetics 17:183-190, 1986. Pubmed reference: 3740554. | |
| Kumar, K., Jones, M.Z., Cunningham, J.G., Kelley, J.A., Lovell, K.L. : | |
| Caprine beta-mannosidosis: phenotypic features. Vet Rec 118:325-7, 1986. Pubmed reference: 2939617. DOI: 10.1136/vr.118.12.325. | |
| 1985 | Matsuura, F., Jones, M.Z. : |
| Structural characterization of novel complex oligosaccharides accumulated in the caprine beta-mannosidosis kidney. Occurrence of tetra- and pentasaccharides containing a beta-linked mannose residue at the nonreducing terminus. J Biol Chem 260:15239-45, 1985. Pubmed reference: 4066670. | |
| Sewell, C.A., Healy, P.J. : | |
| The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis Australian Veterinary Journal 62:286-288, 1985. Pubmed reference: 4062743. | |
| 1983 | Benitez, J.T., Lynn, G.E., Jones, M.Z. : |
| Caprine beta mannosidosis: temporal bone pathology. Adv Otorhinolaryngol 31:135-47, 1983. Pubmed reference: 6624589. | |
| Dunstan, R.W., Cavanagh, K., Jones, M.Z. : | |
| Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. Am J Vet Res 44:685-9, 1983. Pubmed reference: 6869966. | |
| Jones, M.Z., Cunningham, J.G., Dade, A.W., Alessi, D.M., Mostosky, U.V., Vorro, J.R., Benitez, J.T., Lovell, K.L. : | |
| Caprine beta-mannosidosis: clinical and pathological features Journal of Neuropathology and Neurobiology 42:268-285, 1983. Pubmed reference: 6842266. | |
| Lovell, K.L., Jones, M.Z. : | |
| Distribution of central nervous system lesions in beta-mannosidosis Acta Neuropathologica 62:121-126, 1983. Pubmed reference: 6659869. | |
| Malachowski, J.A., Jones, M.Z. : | |
| Beta-mannosidosis: lesions of the distal peripheral nervous system Acta Neuropathologica 61:95-100, 1983. Pubmed reference: 6637401. | |
| Matsuura, F., Jones, M.Z., Frazier, S.E. : | |
| Structural analysis of the major caprine beta-mannosidosis urinary oligosaccharides. Biochim Biophys Acta 759:67-73, 1983. Pubmed reference: 6882792. DOI: 10.1016/0304-4165(83)90190-3. | |
| 1982 | Cavanagh, K., Dunstan, R.W., Jones, M.Z. : |
| Plasma alpha- and beta-mannosidase activities in caprine beta-mannosidosis. Am J Vet Res 43:1058-9, 1982. Pubmed reference: 7103175. | |
| Healy, P.J., McCleary, B.V. : | |
| Alternative substrates for use in the detection of goats heterozygous for beta-mannosidosis. Res Vet Sci 33:73-5, 1982. Pubmed reference: 7134652. | |
| Jones, M.Z., Cunningham, J.G., Dade, A.W., Dawson, G., Laine, R.A., Williams, C.S.F., Alessi, D.M., Mostosky, U.V., Vorro, J.R. : | |
| Caprine beta-mannosidosis :165-176, 1982. | |
| 1981 | Jones, M.Z., Laine, R.A. : |
| Caprine oligosaccharide storage disease. Accumulation of beta-mannosyl (1 goes to 4) beta-N-acetylglucosaminyl (1 goes to 4) beta-N-acetylglucosamine in brain. J Biol Chem 256:5181-84, 1981. Pubmed reference: 7228875. | |
| Jones, MZ., Dawson, G. : | |
| Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. J Biol Chem 256:5185-8, 1981. Pubmed reference: 7228876. |
Edit History
- Created by Frank Nicholas on 16 Nov 2005
- Changed by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012
- Changed by Frank Nicholas on 03 Sep 2012