Categories: Respiratory system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604366 (gene) , 244400 (trait)

Mendelian 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: