OMIA:002885-9823 : Ciliary dyskinesia, primary, DNAI1-related in Sus scrofa (pig) |
Categories: Respiratory system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604366 (gene) , 244400 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: no
Molecular basis: Abou Alaiwa et al. (2024) "used CRISPR-Cas9 to develop a PCD [primary ciliary dyskinesia] pig with a disrupted DNAI1 gene. ... This pig model closely mimics the disease phenotype seen in people with PCD and can be used to better understand the pathophysiology of PCD airway disease. This pig model closely mimics the disease phenotype seen in people with PCD and can be used to better understand the pathophysiology of PCD airway disease."
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 |
---|---|---|---|---|---|---|
DNAI1 | dynein axonemal intermediate chain 1 | Sus scrofa | 10 | NC_010452.4 (32355444..32275173) | DNAI1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002885-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Abou Alaiwa, M.A., Hilkin, B.M., Price, M.P., Gansemer, N.D., Rector, M.R., Stroik, M.R., Powers, L.S., Whitworth, K.M., Samuel, M.S., Jain, A., Ostedgaard, L.S., Ernst, S.E., Philibert, W., Boyken, L.D., Moninger, T.O., Karp, P.H., Hornick, D.B., Sinn, P.L., Fischer, A.J., Pezzulo, A.A., McCray, P.B., Meyerholz, D.K., Zabner, J., Prather, R.S., Welsh, M.J., Stoltz, D.A. : |
Development and initial characterization of pigs with DNAI1 mutations and primary ciliary dyskinesia. bioRxiv , 2024. Pubmed reference: 39229081. DOI: 10.1101/2024.05.22.594822. |
Edit History
- Created by Imke Tammen2 on 05 Sep 2024
- Changed by Imke Tammen2 on 05 Sep 2024