OMIA:000625-10141 : Mannosidosis, alpha in Cavia porcellus
In other species: cattle , sheep , domestic cat , goat
Categories: Lysosomal storage disease
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 248500 (trait) , 609458 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2002
Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of mannose-rich compounds, due to the lack of the enzyme alpha-mannosidase, whose task is to cleave mannose from such compounds. Clinical signs include ataxia, head tremor, aggression, and finally paralysis and death.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|Man2b1||mannosidase, alpha, class 2B, member 1||Cavia porcellus||NT_176377.1 (13498330..13516919)||Man2b1||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|249||Mannosidosis, alpha||Man2b1||missense||Naturally occurring variant||c.679C>T||p.(R227W)||2002||11959458|
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.
|2013||Jensen, J.A., Brice, A.K., Bagel, J.H., Mexas, A.M., Yoon, S.Y., Wolfe, J.H. :|
|Hypervitaminosis D in Guinea Pigs with α-Mannosidosis. Comp Med 63:156-62, 2013. Pubmed reference: 23582422 .|
|2009||Khan, J.M., Ranganathan, S. :|
|A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation. BMC Genomics :S33, 2009. Pubmed reference: 19958498 . DOI: 10.1186/1471-2164-10-S3-S33.|
|2008||Robinson, A.J., Crawley, A.C., Auclair, D., Weston, P.F., Hirte, C., Hemsley, K.M., Hopwood, J.J. :|
|Behavioural characterisation of the alpha-mannosidosis guinea pig. Behav Brain Res 186:176-84, 2008. Pubmed reference: 17889945 . DOI: 10.1016/j.bbr.2007.08.005.|
|2007||Auclair, D., Hopwood, J.J. :|
|Morphopathological features in tissues of alpha-mannosidosis guinea pigs at different gestational ages. Neuropathol Appl Neurobiol 33:572-85, 2007. Pubmed reference: 17854439 . DOI: 10.1111/j.1365-2990.2007.00849.x.|
|2006||Crawley, A.C., King, B., Berg, T., Meikle, P.J., Hopwood, J.J. :|
|Enzyme replacement therapy in alpha-mannosidosis guinea-pigs. Mol Genet Metab 89:48-57, 2006. Pubmed reference: 16807033 . DOI: 10.1016/j.ymgme.2006.05.005.|
|2002||Berg, T., Hopwood, J.J. :|
|Alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. Biochim Biophys Acta 1586:169-76, 2002. Pubmed reference: 11959458 .|
|1999||Crawley, A.C., Jones, M.Z., Bonning, L.E., Finnie, J.W., Hopwood, J.J. :|
|Alpha-mannosidosis in the guinea pig: A new animal model for lysosomal storage disorders Pediatric Research 46:501-509, 1999. Pubmed reference: 10541310 .|
|Muntz, F.H.A., Bonning, L.E., Carey, W.F. :|
|Alpha-Mannosidosis in a guinea pig Laboratory Animal Science 49:424-426, 1999. Pubmed reference: 10480650 .|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 12 Mar 2012