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OMIA:001081-9544 : Muscular dystrophy, Duchenne type in Macaca mulatta (Rhesus monkey)

In other species: dog , domestic cat , pig

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 310200 (trait) , 300377 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: Variants in the DMD gene may give rise to phenotypes with different severity. True null alleles cause the more severe Duchenne muscular dystrophy, while alleles with partial remaining protein function give rise to the milder Becker muscular dystrophy (OMIA:001888).

Species-specific description: Chen et al. (2015) "used CRISPR/Cas9 to target the monkey dystrophin gene to create mutations that lead to Duchenne muscular dystrophy (DMD), a recessive X-linked form of muscular dystrophy."

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
DMD dystrophin Macaca mulatta X NC_041774.1 (33156372..31011537) DMD Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001081-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Ren, S., Fu, X., Guo, W., Bai, R., Li, S., Zhang, T., Liu, J., Wang, Z., Zhao, H., Suo, S., Zhang, W., Jia, M., Ji, W., Hu, P., Chen, Y. :
Profound cellular defects attribute to muscular pathogenesis in the rhesus monkey model of Duchenne muscular dystrophy. Cell , 2024. Pubmed reference: 39305903. DOI: 10.1016/j.cell.2024.08.041.
2015 Chen, Y., Zheng, Y., Kang, Y., Yang, W., Niu, Y., Guo, X., Tu, Z., Si, C., Wang, H., Xing, R., Pu, X., Yang, S.H., Li, S., Ji, W., Li, X.J. :
Functional disruption of the dystrophin gene in rhesus monkey using CRISPR/Cas9. Hum Mol Genet 24:3764-74, 2015. Pubmed reference: 25859012. DOI: 10.1093/hmg/ddv120.

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  • Created by Imke Tammen2 on 02 Oct 2024