OMIA:002060-9541 : Adrenal hypoplasia, congenital in Macaca fascicularis (crab-eating macaque)

Categories: Reproductive system phene , Endocrine / exocrine gland phene (incl mammary gland)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300200 (trait) , 300473 (gene)

Links to relevant human diseases in MONDO:

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)

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
NR0B1 nuclear receptor subfamily 0 group B member 1 Macaca fascicularis X NC_088395.1 (30319212..30313777) NR0B1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002060-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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
  • Changed by Imke Tammen2 on 29 Sep 2023
  • Changed by Imke Tammen2 on 18 Dec 2023