OMIA:002269-9940 : Epidermolysis bullosa, junctionalis, LAMB3-related in Ovis aries (sheep) |
In other species: dog
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 150310 (gene) , 226700 (trait) , 226650 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Letko et al. (2025) whole genome sequenced 2 affected Bleu du Maine halfsib lambs: "Genomic analyses with the hypothesis of autosomal recessive inheritance identified the most likely pathogenic homozygous 1-bp deletion in the LAMB3 gene (NC_056065.1:g.73166198delG) [omia.variant:1781]."
Clinical features: Letko et al. (2025): "The affected [Bleu du Maine] lambs exhibited hoof sloughing and multiple ulcerations on the head, oral cavity, skin over the joints, and the ruminal pillars."
Pathology: Letko et al. (2025): "Histopathology showed abrupt subepidermal clefts, epidermal detachment directly above the basal membrane, and ulcerations consistent with junctional EB (JEB)."
Breed:
Bleu Du Maine (Sheep) (VBO_0001341).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LAMB3 | laminin subunit beta 3 | Ovis aries | 12 | NC_056065.1 (72979383..73170939) | LAMB3 | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1781 | Bleu Du Maine (Sheep) | Junctional epidermolysis bullosa | LAMB3 | deletion, small (<=20) | frameshift | Naturally occurring variant | Not currently evaluated | ARS-UI_Ramb_v2.0 | 12 | NC_056065.1:g.73166198delG | XM_042229255.1:c.3051 + 1delG | XP_042085189.1:p.(V1018Ffs*12) | the 1-bp deletion affects the first nucleotide of intron 20 at the exon/intron boundary and mary result in altered splicing of exon 20 | 2025 | 40100311 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002269-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Letko, A., Harkema, L., Peterson, K., Dijkman, R., Drögemüller, C. : |
| A homozygous LAMB3 frameshift variant in junctional epidermolysis bullosa-affected Bleu du Maine sheep. J Appl Genet 66:709-714, 2025. Pubmed reference: 40100311. DOI: 10.1007/s13353-025-00957-5. |
Edit History
- Created by Imke Tammen2 on 16 Apr 2025
- Changed by Imke Tammen2 on 16 Apr 2025