OMIA:001920-27706 : Lethality, GHRH-related in Micropterus salmoides (largemouth bass) |
Categories: Mortality / aging (incl. embryonic lethal)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 139190 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2014
Molecular basis: In the course of sequencing the GHRH gene in largemouth bass, Ma et al. (2014) identified a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene, and via segregation studies, showed that it is an autosomal recessive embryonic lethal. The heterozygote does not differ significantly from the normal homozygote in growth traits.
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GHRH | Micropterus salmoides | - | no genomic information (-..-) | GHRH | Ensembl |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 677 | Abortion due to deletion in GHRH | GHRH | deletion, gross (>20) | Naturally occurring variant | a 66bp deletion (c.-923_-858del) in the 5' flanking region of the GHRH gene in an autosomal recessive embryonic lethal | 2014 | 24697798 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:001920-27706: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2014 | Ma, D.M., Han, L.Q., Bai, J.J., Li, S.J., Fan, J.J., Yu, L.Y., Quan, Y.C. : |
| A 66-bp deletion in growth hormone releasing hormone gene 5'-flanking region with largemouth bass recessive embryonic lethal. Anim Genet , 2014. Pubmed reference: 24697798. DOI: 10.1111/age.12143. |
Edit History
- Created by Frank Nicholas on 09 Apr 2014
- Changed by Frank Nicholas on 09 Apr 2014
- Changed by Imke Tammen2 on 27 May 2021