In other species: dog , horse

Categories: Integument (skin) phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 226700 (trait) , 600805 (gene) , 245660 (trait) , 226650 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: Congenital blistering skin disease characterized by separation of the lamina lucida of the basement membrane zone. Blisters often occur in and around the mouth and on the limbs, leading in the latter case to separation of the hoof or nail from the corium (dermis).

Mapping: An 8.3 Mb region on chromosome BTA24 (Sartelet et al., 2015).

Molecular basis: In four Belgian Blue calves, Sartelet et al. (2015) identified the causal mutation as a nonsense mutation [c.7825C>T] "in the LAMA3 gene that creates a premature stop codon (p.Arg2609*) in exon 60, truncating 22% of the corresponding protein".

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

Clinical features: As reported by Sartelet et al. (2015), "In the [four] Belgian Blue cases, the main clinical symptoms, present at birth, were the following: extensive skin blistering predominantly located at pressure points and on limb extremities and articulations, hoof exungulation with erythema and multiple mucosal ulcerations in the oral cavity and on the tongue".

Breed: Belgian Blue (Cattle) (VBO_0000139).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: