OMIA 000625-10141 : Mannosidosis, alpha in Cavia porcellus

In other species: cattle , sheep , domestic cat , goat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 248500

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Man2b1 mannosidase, alpha, class 2B, member 1 Cavia porcellus - no genomic information (-..-) Man2b1 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Mannosidosis, alpha Man2b1 missense c.679C>T p.R227W 2002 11959458

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.
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.

Edit History


  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 12 Mar 2012