OMIA:001678-9940 : Epidermolysis bullosa, junctionalis, LAMC2-related in Ovis aries (sheep) |
In other species: horse , taurine cattle
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 226700 (trait) , 226650 (trait) , 150292 (gene)
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: 2011
Cross-species summary: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. [ Orphanet:79404 ]
Species-specific name: Herlitz type junctional epidermolysis bullosa
Species-specific symbol: HJEB
Molecular basis: Mömke et al. (2011) reported the DNA basis of this disorder in German Black Headed Mutton sheep, as follows: "A two base pair deletion within exon 18 of the LAMC2 gene (FM872310:c.2746delCA) causes a frameshift mutation resulting in a premature stop codon (p.A928*) 13 triplets downstream of this mutation and in addition, introduces an alternative splicing of exon 18 LAMC2. This deletion showed a perfect co-segregation with HJEB in all 740 analysed BHM sheep."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breed:
German Blackheaded Mutton (Sheep) (VBO_0001423).
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:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LAMC2 | laminin subunit gamma 2 | Ovis aries | 12 | NC_056065.1 (63664387..63732166) | LAMC2 | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 507 | German Blackheaded Mutton (Sheep) | Epidermolysis bullosa, junctionalis, LAMC2-related | LAMC2 | deletion, small (<=20) | Naturally occurring variant | Oar_rambouillet_v1.0 | 12 | g.68856318_68856319del | c.2746_2747del | p.(A928*) | FM872310 c.2746delCA | 2011 | 21573221 | The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2013). OMIA:001678-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2012 | Ostmeier, M., Kerkmann, A., Frase, R., Ganter, M., Distl, O., Hewicker-Trautwein, M. : |
| Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. J Comp Pathol 146:338-47, 2012. Pubmed reference: 22000950. DOI: 10.1016/j.jcpa.2011.08.008. | |
| 2011 | Mömke, S., Kerkmann, A., Wöhlke, A., Ostmeier, M., Hewicker-Trautwein, M., Ganter, M., Kijas, J., for the International Sheep Genomics Consortium, Distl, O. : |
| A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One 6:e18943, 2011. Pubmed reference: 21573221. DOI: 10.1371/journal.pone.0018943. | |
| 2010 | Kerkmann, A., Ganter, M., Frase, R., Ostmeier, M., Hewicker-Trautwein, M., Distl, O. : |
| Epidermolysis bullosa in German black headed mutton sheep. Berl Munch Tierarztl Wochenschr 123:413-21, 2010. Pubmed reference: 21038812. | |
| 1974 | Alley, M.R., O'Hara, P.J., Middelberg, A. : |
| An epidermolysis bullosa of sheep New Zealand Veterinary Journal 22:55-59, 1974. Pubmed reference: 4527651. DOI: 10.1080/00480169.1974.34133. |
Edit History
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 17 Aug 2012
- Changed by Frank Nicholas on 25 Nov 2013