OMIA:002865-9986 : Cerebral palsy, RHOB-related in Oryctolagus cuniculus (rabbit)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

Species-specific description: Wu et al. (2024) created a rabbit model using the SpG-BE4max system to mimic a de novo RhoB p.S73F mutation associated with cerebral palsy in humans. This study involves 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

Breed: New Zealand White (Rabbit) (VBO_0001269).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol	Description	Species	Chr	Location	OMIA gene details page	Other Links
RHOB	ras homolog family member B	Oryctolagus cuniculus	2	NC_067375.1 (169813513..169815855)	RHOB	Homologene, Ensembl , NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID	Breed(s)	Variant Phenotype	Gene	Allele	Type of Variant	Source of Genetic Variant	Reference Sequence	Chr.	g. or m.	c. or n.	p.	Verbal Description	EVA ID	Year Published	PubMed ID(s)	Acknowledgements
1709	New Zealand White (Rabbit)	Cerebral palsy, RHOB-related	RHOB		missense	Genome-editing (CRISPR-Cas9)	OryCun2.0	2	NC_013670.1:g.169569191_169569192delinsTT	XM_008254781.2:c.218_219delinsTT	XP_008253003.1:p.(S73F)			2024	39080495

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Clinical synopsis/links to phenotypes

Variant	Phenotype(s)	References (Pubmed ID)
1709	HP:0001273: abnormal corpus callosum morphology HP:0000762: decrease nerve conduction velocity UPHENO:0001065: increase size of the third ventricle HP:0006956: lateral ventricle dilatation HP:0006970: periventricular leukomalacia HP:0002172: postural instability HP:0012407: scissor gait	39080495

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002865-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024

Wu, X., Liu, R., Zhang, Z., Yang, J., Liu, X., Jiang, L., Fang, M., Wang, S., Lai, L., Song, Y., Li, Z. :

The RhoB p.S73F mutation leads to cerebral palsy through dysregulation of lipid homeostasis. EMBO Mol Med 16:2002-2023, 2024. Pubmed reference: 39080495. DOI: 10.1038/s44321-024-00113-2.

Edit History

Created by Imke Tammen2 on 11 Aug 2024
Changed by Imke Tammen2 on 11 Aug 2024

The University of Sydney - OMIA - Online Mendelian Inheritance in Animals