Test Detail

Multi-disease panel for the Shiba Inu that groups four molecular tests: GM1 gangliosidosis (GLB1), GM2 gangliosidosis (HEXB) and two coat loci —A-locus (ASIP) and E-locus (MC1R, e1 allele)—. It combines two severe neurometabolic diseases, both autosomal recessive and lethal in homozygosity, with two coat markers useful for breeding.

Applicable breed: Shiba Inu. GM1 (GLB1): carrier frequency around 1-3% described in Japan (Uddin et al., 2013; PMID 23819787); outside Japan, limited data. GM2 (HEXB): rare but distributed variant (Kolicheski 2017; Wang 2018), with no reliable frequency figures. A-locus and E-locus: coat traits with no population frequency published systematically (limited data).

- Genotype breeding animals before mating; the panel covers four conditions/markers in a single sample\n- For GM1 and GM2 (recessive): do not cross two carriers — 25% risk of affected homozygotes; carrier×clear is safe for offspring intended for breeding if tested\n- For A- and E-locus: they guide coat prediction; they do not imply disease, but they inform the buyer about colour genetics\n- After a confirmed clinical case, do not repeat the parental cross and communicate the status to the buyer

Check the exact panel offered by each laboratory. Gangliosidoses are diagnosed by enzyme activity in leukocytes and molecular testing; the differential diagnosis includes other progressive encephalopathies of the puppy. A- and E-locus do not predict disease; inform the buyer of their descriptive nature.

1. Wang ZH et al. 2000. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis. PMID: 11032334
2. Yamato O et al. 2002. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis. PMID: 12555949
3. Uddin MM et al. 2013. Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan. BMC Vet Res. PMID: 23819787
4. Kolicheski AL et al. 2017. GM2 gangliosidosis in Shiba Inu dogs with an in-frame deletion in HEXB. J Vet Intern Med. PMID: 28833537
5. Wang P et al. 2018. Canine GM2-gangliosidosis Sandhoff disease associated with a 3-base pair deletion in the HEXB gene. J Vet Intern Med. PMID: 29106755
6. Bannasch DL et al. 2021. Dog colour patterns explained by modular promoters of ancient canid origin. Nat Ecol Evol. PMID: 34385618
7. Belyakin SN et al. 2022. ASIP promoter variants predict the sesame coat color in Shiba Inu dogs. Vet Sci. PMID: 35622750
8. Newton JM et al. 2000. Melanocortin 1 receptor variation in the domestic dog. Mamm Genome. PMID: 10602988
9. Everts RE et al. 2000. Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) in Labrador and Golden retrievers with yellow coat colour. Anim Genet. PMID: 10895310
OMIA:000402-9615 / OMIA:001462-9615 / OMIA:000201-9615 / OMIA:001199-9615.