OMIA:002688-9986 : Microcephaly, YIPF5-related in Oryctolagus cuniculus (rabbit) |
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611483 (gene) , 619278 (trait)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific description: Liu et al. (2023) "constructed a rabbit PMCPH [primary microcephaly] model harboring YIPF5 (p.W218R) mutation using SpRY-ABEmax mediated base substitution, which precisely recapitulated the typical symptoms of human PMCPH." This study involves genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
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 |
|---|---|---|---|---|---|---|
| YIPF5 | Yip1 domain family, member 5 | Oryctolagus cuniculus | 3 | NC_067376.1 (26030012..26008450) | YIPF5 | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1551 | Microcephaly, primary | YIPF5 | missense | Base-editing | p.(W218R) | 2023 | 37142085 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002688-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Liu, X., Yang, J., Li, Z., Liu, R., Wu, X., Zhang, Z., Lai, L., Li, Z., Song, Y. : |
| YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits. Neurobiol Dis :106135, 2023. Pubmed reference: 37142085. DOI: 10.1016/j.nbd.2023.106135. |
Edit History
- Created by Imke Tammen2 on 06 May 2023
- Changed by Imke Tammen2 on 18 Dec 2023