Beagle — Musladin-Lueke syndrome, Chinese beagle syndrome (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_beagle_musladin_lueke_syndrome_chinese_beagle_syndrome_dog category: companion-breed-health title: "Beagle — Musladin-Lueke syndrome, Chinese beagle 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/beagle_musladin_lueke_syndrome_chinese_beagle_syndrome_2980.txt date_parsed: 2026-08-02 tokens_estimated: 190 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_beagle_musladin_lueke_syndrome_chinese_beagle_syndrome_dog/01_companion_breed_health_beagle_musladin_lueke_syndrome_chinese_beagle_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: "Beagle — Musladin-Lueke syndrome, Chinese beagle syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001509/9615/" 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

Beagle — Musladin-Lueke syndrome, Chinese beagle 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: Beagle (Dog)
• Disorder: Musladin-Lueke syndrome, Chinese beagle syndrome
• Mode of inheritance: Autosomal recessive
• Clin feat: As reported by Bader et al. (2010), this disorder is characterized by short stature, thick, taut skin, and severely restricted joint mobility . . . Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, “tip-toe” gait, and pleasant temperaments. Additionally, cardiac disease has been reported as possibly associated with Muscladin-Lueke syndrome, but reports are inconsistent (Packer et al., 2017). [IT thanks DVM student Elizabeth Polley for contributions to this entry in April 2022]
• 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 26593484 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Fine-mapping followed by sequencing of likely positional candidate genes resulted in Bader et al (2010) identifying the causal mutation as a missense mutation in ADAMTSL2: "(c.660C&gt;T) predicted a non-synonymous change, converting an arginine to a cysteine at codon 221 (R221C), occurred in a highly conserved stretch of residues, and was computationally predicted to negatively impact protein stru…

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.

• 2010. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One — PubMed:PMID20862248 | DOI:10.1371/journal.pone.0012817 — OMIA Phene_Article / Article
• 1990. "The New Beagle", Howell Book House, New York — OMIA Phene_Article / Article
• 1998. "The New Beagle", Howell Book House, New York (2nd edn) — OMIA Phene_Article / Article
• 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article
• 2017. Clinical phenotype of Musladin-Lueke syndrome in 2 Beagles. J Vet Intern Med — PubMed:PMID28158899 | DOI:10.1111/jvim.14654 — OMIA Phene_Article / Article
• 2026. Comprehensive diagnosis and management of Musladin-Lueke syndrome in a Beagle in Japan. J Vet Med Sci — PubMed:PMID42324135 | DOI:10.1292/jvms.26-0135 — 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:231050 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:612277 (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."