Bull Mastiff — White Doberman Pinscher (hereditary; OMIA-verified breed predisposition)

Bull Mastiff — White Doberman Pinscher (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: Bull Mastiff (Dog)
• Disorder: White Doberman Pinscher
• Mode of inheritance: Autosomal recessive
• `Clin feat: Dogs with oculocutaneous albinism type IV have white (cream) coat coloration, blue eyes (iris), pink nose and lips, hypopigmented adnexal structures (eyelid margins, nictitating membrane margins, and cilia), and hypopigmented retinal pigment epithelium and choroid (Winkler et al., 2014). Dogs may also present with photophobia and vision defects (Winkler et al., 2014). Additionally, exposure of the hypopigmented skin to ultraviolet radiation may result in cutaneous melanocytic neoplasms and/or ocular masses (Caduff et al., 2017; Winkler et al., 2014).77,062,968–77,067,051)" (g.27141_31223del (CanFam2)) as a highly likely causative mutation (Winkler et al., 2014). As also reported by Winkler et al. (2014), "This mutation is predicted to cause the last 50 amino…

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.

• 2014. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman Pinscher dogs. PLoS One — PubMed:PMID24647637 | DOI:10.1371/journal.pone.0092127 — OMIA Phene_Article / Article
• 2015. A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds. J Hered — PubMed:PMID25790827 | DOI:10.1093/jhered/esv008 — OMIA Phene_Article / Article
• 2017. A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. Anim Genet — PubMed:PMID28737247 | DOI:10.1111/age.12582 — OMIA Phene_Article / Article
• 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — 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
• 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — 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

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:606574 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:227240 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:606202 (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."