OMIA 002157-9823 : Ectodermal dysplasia-9 in Sus scrofa

In other species: goat , rabbit

Possibly relevant human trait(s) and/or gene(s) (MIM number): 614931

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2017

Species-specific description: This entry describes a genetically-modified organism (GMO)

Molecular basis: Han et al. (2017) "generated an ED-9 pig model via Hoxc13 gene knockout through single-stranded oligonucleotides (c.396C > A) combined with CRISPR/Cas9 and somatic cell nuclear transfer"

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HOXC13 homeobox C13 Sus scrofa 5 NC_010447.5 (19151096..19159008) HOXC13 Homologene, Ensembl, NCBI gene

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  • Created by Frank Nicholas on 27 Aug 2018