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Imerslund Grasbeck syndrome    I-GS Test     Code 360

Test Pricing

For breeds: Border Collie

OptiGen is pleased to offer a DNA test for Imerslund Grasbeck syndrome (I-GS) in the Border Collie.  This disease, characterized by selective intestinal cobalamin (vitamin B12) malabsorption with selective proteinuria, is caused by a mutation in the cubilin gene identified by a research team led by Dr. Fyfe at Michigan State University (see manuscript reference below).  I-GS is an autosomal recessive disease.  This means that the disease is only observed in dogs that carry two copies of the mutation (i.e. in dogs that are "homozygous" for the cubilin mutation.) Carriers of one copy of the cubilin mutation do not exhibit I-GS disease.

Clinical signs: Imerslund Grasbeck syndrome (I-GS) affected dogs exhibit a variety of clinical signs: failure to thrive, poor body condition, weakness and diarrhea, that typically become apparent in the first year to 24 months of life.  Treatment, if provided early and prior to onset of severe conditions such as hepatic encephalopathy or ketoacidosis, is effective.

Frequency of I-GS in the Border Collie: Fyfe et al., estimated that in 2013 the frequency of the I-GS mutation in Border Collies was 6%. OptiGen will be able to provide updated mutation frequency to those who are interested as more dogs are tested.

Breeding strategies: In order to avoid producing I-GS affected offspring at least one parent of any litter should be DNA tested and shown to be Normal/Clear of the I-GS mutation.

Expected results for breeding strategies using the mutation test for IGS
Parent 1
Genotype
Parent 2     Genotype
NormalCarrierAffected
NormalAll = Normal1/2 = Normal
1/2 = Carriers
All = Carriers
Carrier1/2 = Normal
1/2 = Carriers
1/4 = Normal
1/2 = Carriers
1/4 = Affected
1/2 = Carriers
1/2 = Affected
AffectedAll = Carriers1/2 = Carriers
1/2 = Affected
All = Affected

 

Reference:

  1. Fyfe et. al (2013) An exon 53 frameshift mutation in CUBM abrogates cubam function and causes Imerslund-Grasbeck syndrome in dogs. Mol Genet Metab. 2013 August; 109(4): 390-396.

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Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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