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Cystinuria in the Australian Cattle Dog - SLC3A1 deletion

Renal / urinary · Dog

Genetic test for type II-A cystinuria in the Australian Cattle Dog: it detects the SLC3A1 deletion c.1098_1103del (p.T367_T368del), dominantly inherited, associated with a defect in renal cystine reabsorption with urolithiasis and risk of urinary obstruction. The molecular test is complementary —not substitutive— to urinalysis and stone analysis.
Inheritance patternAutosomal dominant (type II-A, not androgen-dependent): both hetero- and homozygotes excrete excess cystine.
Gene / MutationSLC3A1 in-frame deletion c.1098_1103del (p.T367_T368del), CanFam3.1 NC_006592.3:g.46725151_46725156del (published as c.1095_1100delCACCAC).
PenetranceDominant with variable expressivity: hetero- and homozygotes biochemically affected (COLA ≥3,000 and ≥8,000 respectively); variable clinical signs.
Sample type0,5 - 1 ML Sangre EDTA o 2 Hisopos bucales sin medio de raspado intenso
Codecyac
Turnaround time7 days
Price36,05 €
BreedsBoyero australiano

Incidence

Applicable breed: Australian Cattle Dog (the only breed described, OMIA:001879). Limited population data.

Clinical signs

- Recurrent cystitis, hematuria, strangury (males and females)
- Hexagonal cystine crystals in sediment or cystine stones
- Partial or complete urinary obstruction
- Possible renal failure in unresolved obstructions

History

Brons et al. (2013) identified an in-frame 6-bp deletion in exon 6 of SLC3A1 as the cause of cystinuria in the Australian Cattle Dog, within their new I/II/III classification. Cystinuria type II-A, OMIA:001879; the only breed described.

Breeder management

- Do not breed from affected animals (neither hetero- nor homozygotes): 50% of the offspring inherit the variant
- Test breeding animals before mating; only a clear×clear mating avoids transmitting the variant to the offspring
- Prophylaxis: high hydration, alkaline urine, control of crystalluria
- After a confirmed clinical case, do not repeat the parental mating

Specialist notes

Differentiate from recessive type I cystinuria (Newfoundland/Landseer, SLC3A1 c.586C>T) and from androgen-dependent type III (entire males of other breeds: it resolves with castration — not applicable here). Diagnosis: hexagonal crystals in sediment or stone analysis; metabolic screening (nitroprusside, urinary amino acids) detects it before the clinical picture.

References

1. Brons et al. 2013, SLC3A1/SLC7A9 y nueva clasificación I/II/III incl. Boyero australiano (PMID 24001348)
2. Revisión cistinuria perro y gato 2021 (PMID 34438894)
3. OMIA:001879 Cystinuria, type II-A
4. Lulich et al. 2025, epidemiología de urolitos de cistina (PMID 40298126)

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Price: 36,05 € · Turnaround time: 7 days

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