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Collie — Grey Collie Syndrome; Gray Collie Syndrome (hereditary; OMIA-verified breed predisposition)

companion_breed_health_collie_grey_collie_syndrome_gray_collie_syndrome_dog

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--- license: permission_granted topic_id: companion_breed_health_collie_grey_collie_syndrome_gray_collie_syndrome_dog category: companion-breed-health title: "Collie — Grey Collie Syndrome; Gray Collie Syndrome (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/collie_grey_collie_syndrome_gray_collie_syndrome_487.txt date_parsed: 2026-08-02 tokens_estimated: 626 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_collie_grey_collie_syndrome_gray_collie_syndrome_dog/01_companion_breed_health_collie_grey_collie_syndrome_gray_collie_syndrome_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Collie — Grey Collie Syndrome; Gray Collie Syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000248/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Collie — Grey Collie Syndrome; Gray Collie Syndrome (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

  • Breed: Collie (Dog)
  • Disorder: Grey Collie Syndrome; Gray Collie Syndrome
  • Mode of inheritance: Autosomal recessive
  • Summary: Cyclic neutropenia, also known as cyclic hematopoiesis or Grey/Gray Collie Syndrome, is characterized by cyclic fluctuations in the numbers of leucocytes, particularly neutrophils. Affected animals have an associated coat color dilution, producing a gray coat color. Affected dogs have cyclic reductions in leucocyte numbers, particularly neutrophils, which are associated with recurrent fever, anorexia, and severe infections, often life threatening. The mode of inheritance is autosomal recessive. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT
  • Clin feat: Clinical signs are associated with severe neutropenia, and include recurrent fever, anorexia, and severe infections, which can be life threatening (Dale et al., 1972, Pacheco et al., 2008). Affected animals have an associated coat color dilution, producing a gray coat color.
  • Defect: yes
  • Pathology: AP3 is a protein complex on the cytosolic side of membrane-bound vesicles, and directs proteins from the Golgi apparatus to lysosomes. The beta subunit of AP3 recognizes neutrophil elastase (ELA2) as its cargo and transports it to lysosomal granules. In the absence of normally functioning AP3B1, ELA2 is not transported to the correct location, and does not function properly. Neutrophils of affected dogs have elastase deficiency and accumulate elastase precursor proteins in their primary granules (Meng et al., 2010).
  • Prevalence: The prevalence of the mutant allele in the Collie breed is unknown. Lee et al. (2022) reported a mixed-breed puppy with the same clinical signs of this disorder as seen in Collies, and which was homozygous for the likely causal insertion variant reported in Collies (OMIA variant 580). However, the authors reported that The puppy does not have phenotypic features suggestive of a collie and is presumed to be a cross between a Labrador Retriever and a Mastiff. Consequently, they concluded that the AP3B1 mutation and CH are present within the general canine population and are not restricted to collies.
  • Control: Parents of affected dogs are carriers. Siblings of affected dogs should be tested for the causative mutation. It is recommended that carriers only be bred to noncarriers, in which case, testing of offspring is advisable.
  • Gen test: A test is available to detect the causative mutation.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • Gene: Entrez Gene ID 403459 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Benson et al. (2003) showed that the causative mutation is a single base pair insertion in exon 20 of AP3 beta gene (AP3B1), which encodes the beta 3A subunit of adaptor protein complex 3 (AP3). This causes a frame shift in the amino acid code, and ultimately premature termination of AP3 mR…

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • Variant: chromosome 1; pathogenicity class 1 — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • 1971. Cyclic urinary leukopoietic activity in gray collie dogs. Science — PubMed:PMID5581910 | DOI:10.1126/science.173.3992.152 — OMIA Phene_Article / Article
  • 1972. Cyclic hematopoiesis: the mechanism of cyclic neutropenia in Grey Collie dogs. Journal of Clinical Investigation — PubMed:PMID5054472 | DOI:10.1172/JCI107027 — OMIA Phene_Article / Article
  • 1972. Studies of neutrophil production and turnover in gray Collie dogs with cyclic neutropenia. J Clin Invest — PubMed:PMID5054471 | DOI:10.1172/JCI107026 — OMIA Phene_Article / Article
  • 1973. Cyclic hematopoiesis in grey Collie dogs: a stem cell problem. Blood — PubMed:PMID4796766 — OMIA Phene_Article / Article
  • 1974. Regulation of cyclic erthropoiesis in the Grey Collie. Journal of Clinical Investigation — OMIA Phene_Article / Article
  • 1978. Cell proliferation of canine cyclic hematopoietic marrow in diffusion chambers. Proc Soc Exp Biol Med — PubMed:PMID351627 | DOI:10.3181/00379727-158-40137 — OMIA Phene_Article / Article
  • 1967. Cyclic neutropenia in grey collie dogs. Blood — PubMed:PMID6067150 — OMIA Phene_Article / Article
  • 1974. Hematopoiesis in the Grey Collie dog : studies of the regulation of erythropoiesis. Journal of Clinical Investigation — PubMed:PMID4430726 | DOI:10.1172/JCI107837 — OMIA Phene_Article / Article
  • 1975. The Grey Collie syndrome (cyclic neutropenia). Journal of the American Animal Hospital Association — OMIA Phene_Article / Article
  • 1970. Additional evidence on the inheritance of cyclic neutropenia in the dog. J Hered — PubMed:PMID5529685 | DOI:10.1093/oxfordjournals.jhered.a108033 — OMIA Phene_Article / Article
  • 1978. Recovery of hair coat colour in Gray Collie (cyclic neutropenia) normal bone marrow transplant chimeras. American Journal of Pathology — PubMed:PMID347941 — OMIA Phene_Article / Article
  • 1971. Serum immunoglobulin levels in Grey Collies. Society for Experimental Biology and Medicine — OMIA Phene_Article / Article
  • (74 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

  • OMIM:608233 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:603401 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."

Sources

Collie — Grey Collie Syndrome; Gray Collie Syndrome (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 5581910

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