Mannosidosis

Related Terms: Alpha-mannosidosis, MAN2B1

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

3 weeks

View Sample Collection and Shipping Instructions

Sample Processing

Cost: $75.00

Species and Breeds
Feline - Domestic Short Hair
Feline - Persian

Order Test We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical signs become apparent at 3 weeks of age. Clinical signs include progressive ataxia (incoordination), emaciation, loss of appetite, frequent regurgitation, and paraplegia (paralysis of the lower body). Cats with this disease have dramatically shortened life expectancies and are generally humanely euthanized between 9–16 months of age.

9–16 months

Autosomal recessive

In cats, affected with alpha mannosidase deficiency, there is lysosomal storage of mannose-rich oligosaccharides. Histologically, this manifests as cytoplasmic vacuolation in neurons, mesenchymal and epithelial cells, as the storage material gets “washed out” during tissue processing.

Unpublished (Domestic Short Hair) MAN2B1 and NM_001009222.1:c.1749_1752delCCAG (Persian)

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Mannosidosis and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Mannosidosis but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Mannosidosis and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Berg T, Tollersrud OK, Walkley SU, Siegel D, Nilssen O. Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochem J. 1997 Dec 15;328 ( Pt 3)(Pt 3):863-70. doi: 10.1042/bj3280863. PMID: 9396732; PMCID: PMC1218998.