--- license: permission_granted topic_id: companion_breed_health_australian_shepherd_bob_tail_bob_tail_dog category: companion-breed-health title: "Australian Shepherd — bob-tail, bob tail (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/australian_shepherd_bob_tail_bob_tail_316.txt date_parsed: 2026-08-02 tokens_estimated: 80 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_australian_shepherd_bob_tail_bob_tail_dog/01_companion_breed_health_australian_shepherd_bob_tail_bob_tail_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: "Australian Shepherd — bob-tail, bob tail (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000975/9615/" 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
Australian Shepherd — bob-tail, bob tail (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: Australian Shepherd (Dog)Disorder: bob-tail, bob tailMode of inheritance: Autosomal dominantSummary: Short tails (also known as bob-tails) occur as single-locus traits in a number of dog breeds.Defect: yes
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 403653 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Noting that null mutations in the T gene (also called TBXT) in the mouse result in a phenotype very similar to that of bob-tail in dogs, Haworth et al. (2001) investigated the canine homologue of the mouse T gene as a candidate gene for bob-tails in Pembroke Welsh Corgis. Their hunch was correct: the bob-tail phenotype in this breed is due to a missense mutation (C295G; Ile63Met). Hytönen et al. (…
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 20; nt change XM_038567816.1:c.151C>T; protein XP_038423744.1:p.(R51C); dbSNP rs22915955; pathogenicity class 1; gene C20H19orf28 — 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.
- 1934. Inheritance in Toy Griffons. Journal of Heredity — OMIA Phene_Article / Article
- 1957. Brachyury in Cocker Spaniels. Journal of Heredity — OMIA Phene_Article / Article
- 2001. Canine homolog of the T-box transcription factor T; failure of the protein to bind to its DNA target leads to a short-tail phenotype. Mammalian Genome — PubMed:PMID11252170 | DOI:10.1007/s003350010253 — OMIA Phene_Article / Article
- 2008. Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics — PubMed:PMID18505865 | DOI:10.1534/genetics.108.087866 — OMIA Phene_Article / Article
- 2009. Ancestral T-box mutation is present in many, but not all, short-tailed dog breeds. J Hered — PubMed:PMID18854372 | DOI:10.1093/jhered/esn085 — OMIA Phene_Article / Article
- 2008. A study of inherited short tail and taillessness in Pembroke Welsh corgi. J Small Anim Pract — PubMed:PMID17850278 | DOI:10.1111/j.1748-5827.2007.00435.x — OMIA Phene_Article / Article
- 2019. True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One — PubMed:PMID31658272 | DOI:10.1371/journal.pone.0223995 — OMIA Phene_Article / Article
- 2023. The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. PLoS One — PubMed:PMID36848350 | DOI:10.1371/journal.pone.0281215 — OMIA Phene_Article / Article
- 2023. Comprehensive analysis of geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed. Canine Med Genet — PubMed:PMID37277858 | DOI:10.1186/s40575-023-00130-3 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
- 2017. The genetic origin of short tail in endangered Korean dog, DongGyeongi. Sci Rep — PubMed:PMID28855671 | DOI:10.1038/s41598-017-10106-6 — OMIA Phene_Article / Article
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:601397 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:615709 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:182940 (type: trait) — 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."