OMIA:001323-10105 : Dwarfism, GHR-related in Mus minutoides (Southern African pygmy mouse) |
In other species: pig , taurine cattle
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262500 (trait) , 604271 (trait) , 600946 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: no
Cross-species summary: similar to Laron Syndrome in humans renamed from 'Dwarfism, Laron' [28/04/2023]
Species-specific description: Matsuya et al. (2023) "investigate[d] the growth hormone receptor (Ghr) gene sequence in M. minutoides. [The authors] identified several amino acid variations, including the P469L mutation. [The] findings suggest that this mutation affects Ghr protein functionality, decreasing Igf1 expression and contributing to the dwarfism observed in [the species] M. minutoides."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001323-10105: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Matsuya, S., Fujino, K., Imai, H., Kusakabe, K.T., Kano, K. : |
| Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism. MicroPubl Biol 2023, 2023. Pubmed reference: 37767364. DOI: 10.17912/micropub.biology.000955. |
Edit History
- Created by Imke Tammen2 on 03 Oct 2023
- Changed by Imke Tammen2 on 03 Oct 2023