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German Shepherd and Czechoslovakian Wolfdog pack: Pituitary dwarfism, HUU, DM, MDR1 and long coat

General genetics · Dog

Multi-disease genetic panel for the German Shepherd and the Czechoslovakian Wolfdog grouping five molecular tests: pituitary dwarfism (LHX3), hyperuricosuria (SLC2A9), degenerative myelopathy (SOD1 exon 2), ivermectin sensitivity (MDR1/ABCB1) and coat length (FGF5). It combines endocrine, urinary, neurological, pharmacogenetic conditions and a coat marker. The panel is complementary to the clinical and neurological examination in breeding selection.
Inheritance patternMixed: LHX3 (dwarfism) — autosomal recessive. HUU (SLC2A9) — autosomal recessive. DM (SOD1 exon 2) — autosomal recessive. MDR1 (ABCB1) — recessive with dose effect. Long coat (FGF5) — autosomal recessive.
Gene / MutationLHX3 (pituitary dwarfism); SLC2A9 (HUU); SOD1 exon 2 (DM); ABCB1-1Δ (MDR1); FGF5 c.284G>T (long coat).
PenetranceDwarfism: complete penetrance in homozygotes. HUU: variable penetrance. DM: incomplete penetrance. MDR1: variable penetrance — homozygotes with neurotoxicity, heterozygotes with intermediate sensitivity. Long coat: complete penetrance as a marker.
Sample typesangre con EDTA 1mL
Codegujv
Turnaround time1 days
Price126,89 €
BreedsPastor alemán, Perro lobo checoslovaco

Incidence

German Shepherd and Czechoslovakian Wolfdog. Carrier frequencies vary between countries and lines. MDR1 is present in the German Shepherd. Pituitary dwarfism is rare. Reliable carrier frequencies are not systematically published for the five conditions (limited data).

Clinical signs

- Dwarfism: delayed growth and bone maturation, alopecia, absence of guard hair
- HUU: urate stones in the bladder or kidney
- DM: ataxia and ascending paresis with onset in adulthood
- MDR1: neurotoxicity after ivermectin, loperamide or certain chemotherapeutic agents
- Long coat: long, silky coat (coat marker, not a disease)

History

Each test in the panel was characterised independently. Pituitary dwarfism was associated with two causal variants in LHX3 (2022), with autosomal recessive inheritance. Canine hyperuricosuria was associated with SLC2A9 in the Dalmatian and extended to related breeds. Canine DM was linked to the SOD1 exon 2 variant based on the work of Awano and colleagues in 2009. The MDR-1 defect was associated with a deletion in ABCB1 initially described in Collies and extended to herding breeds. Long coat length was associated with the FGF5 gene.

Breeder management

- Genotype breeding animals before mating
- For dwarfism, HUU, DM and MDR1 (recessive): do not mate two carriers — 25% affected homozygotes; carrier × clear is safe if tested
- MDR1 homozygote: avoid ivermectin, moxidectin, loperamide and other P-gp substrate drugs; inform the veterinarian
- For long coat: guide the expected coat in the litter; it does not imply disease
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status

Specialist notes

DM is a diagnosis of exclusion: rule out spinal cord compression, disc herniation and neoplasia before attributing the condition to SOD1. Pituitary dwarfism is confirmed by hormone profile (GH/IGF-1) and molecular test; the differential diagnosis includes hypothyroidism and malnutrition. HUU is confirmed by urinalysis (uric acid) and stone analysis. The MDR1 defect must be kept in mind when prescribing.

References

1. Awano T et al. 2009, SOD1 exón 2 y mielopatía degenerativa (PMID 19188595)
2. Mealey KL et al. 2001, deleción ABCB1/MDR1 (PMID 11692082)
3. Bannasch D et al. 2008, SLC2A9 e hiperuricosuria (PMID 18989453)
4. Fyfe JC et al. 2013, estructura génica de TPO canina (PMID 23223904)
5. Missense en LHX3 e enanismo pituitario canino (OMIA:002314)

Tests included in this pack (5)

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Price: 126,89 € · Turnaround time: 1 days

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