In other species: domestic cat , taurine cattle

Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 226650 (trait) , 226700 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Blisters in and around the mouth and on the limbs, leading in the latter case to separation of the hoof from the corium (dermis), resulting in inability to stand.

Species-specific description: Olivry et al. (1997) "describe the existence of a previously unreported form of familial localized non-lethal JEB in German Shorthaired Pointer littermates. ... The defective expression of collagen XVII is likely to be caused by mutation(s) of the COL17A1 gene, as previously reported in humans."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Olivry et al. (1997) "Acral, auricular and oral erosions and ulcers were observed. Severe ulceration of the footpads was present."

Pathology: Olivry et al. (1997) "Skin biopsy specimens of non-lesional and lesional skin of affected dogs were screened for a defect in basement membrane proteins using indirect immunofluorescence and immunoperoxidase testing. Epidermal staining for laminin-5 and integrin α6β4 was similar in affected and normal control dogs. Lack of expression of collagen XVII was uniquely identified in all sections of JEB probands compared with normal control dogs."

Breed: German Shorthaired Pointer (Dog) (VBO_0200583).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below