Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608716 (trait) , 605481 (gene)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: Kou et al. (2015)  "report that by co-injecting Cas9 mRNA and sgRNAs into one-cell-stage embryos, founder ferrets with biallelic mutations in one of three genes (Dcx, Aspm and Disc1) can be generated with high efficiency up to 73.3%. ... The ferret with Aspm mutation showed a smaller brain with gyrification defect compared to the wild type ... ." This study involves gene edited or 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: