OMIA:002060-9541 : Adrenal hypoplasia, congenital in Macaca fascicularis

Categories: Endocrine / exocrine gland phene (incl mammary gland)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300200 (trait) , 300473 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This disorder has been created artificially by CRISPR/Cas9; it is a genetically-modified organism (GMO)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DAX1 Macaca fascicularis - no genomic information (-..-) DAX1 Ensembl

Reference

2015 Kang, Y., Zheng, B., Shen, B., Chen, Y., Wang, L., Wang, J., Niu, Y., Cui, Y., Zhou, J., Wang, H., Guo, X., Hu, B., Zhou, Q., Sha, J., Ji, W., Huang, X. :
CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH. Hum Mol Genet 24:7255-64, 2015. Pubmed reference: 26464492 . DOI: 10.1093/hmg/ddv425.

Edit History


  • Created by Frank Nicholas on 18 Oct 2016