OMIA:001595-9823 : Growth disorder, syndromic, OBSL1-related in Sus scrofa (pig) |
In other species: sheep
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 612921 (trait) , 612921 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: similar to 3M syndrome in humans; renamed form "brachygnathia, cardiomegaly and renal hypoplasia syndrome" [27/04/2025]
Mapping: Boshove et al. (2024) "report a large-scale sequence based genome-wide association study (GWAS) in pigs, with a total of 120,000 Large White and 80,000 Synthetic breed animals ... . This sequence-based analysis revealed a total of 14 additive and 9 non-additive significant quantitative trait loci (QTLs) for growth rate and backfat thickness. ... For the Synthetic breed, we revealed a QTL on chromosome 15 ... ."
Molecular basis: Boshove et al. (2024) identified a likely causal 5bp deletion in OBSL1: "Homozygous animals show very poor growth and highly elevated levels of backfat, growing on average around 100 grams a day less (-1.08 SDs) and showing an increase in backfat of 2.2mm (2.24 SDs) compared to non-homozygotes." The authors also suggested likely causal variants for growth rate and backfat in other genes, including CDHR2, ANKRD55, MPIG6B.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| OBSL1 | obscurin like cytoskeletal adaptor 1 | Sus scrofa | 15 | NC_010457.5 (121581314..121560009) | OBSL1 | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1793 | Growth disorder | OBSL1 | deletion, small (<=20) | Naturally occurring variant | Sscrofa11.1 | 15 | NC_010457.5:g.121576507_121576511del | XM_021076298.1:c.2009_2013del | XP_020931957.1:p.Y670Cfs69* | 2024 | 38198533 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:001595-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Boshove, A., Derks, M.F.L., Sevillano, C.A., Lopes, M.S., van Son, M., Knol, E.F., Dibbits, B., Harlizius, B. : |
| Large scale sequence-based screen for recessive variants allows for identification and monitoring of rare deleterious variants in pigs. PLoS Genet 20:e1011034, 2024. Pubmed reference: 38198533. DOI: 10.1371/journal.pgen.1011034. |
Edit History
- Created by Imke Tammen2 on 27 Apr 2025
- Changed by Imke Tammen2 on 27 Apr 2025