Immunohistochemical analyses of tissue arrays containing slices of the cerebellum and frontal cortex of autistic and age- and sex-matched control subjects revealed decreased expression of RORA in the autistic brain (Nguyen et al., 2010).
Molecular Function
A member of the nuclear hormone-receptor superfamily
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidat...
Knockdown of roraa results in reduced size of the cerebellum which can be rescued by human RORA mRNA. Roraa knockout leads to reduction in molecular layer and granule cell layer thickness. The pathogenicity of the human RORA 4 missense variants is revealed by increased embryonic lethality in zebrafish.
References
Type
Title
Author, Year
Primary
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Embryos at 1- to 4-cell stage were injected with 2ng of splice blocking morpholino targeting the splice donor site of exon 2 (e2i2) of roraa.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Embryos at 1- to 4-cell stage were injected with 3ng of splice blocking morpholino targeting the splice donor site of exon 2 (e2i2) of roraa.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Embryos at 1- to 4-cell stage were injected with 4ng of splice blocking morpholino targeting the splice donor site of exon 2 (e2i2) of roraa.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Embryos at 1- to 4-cell stage were injected with 6ng of splice blocking morpholino targeting the splice donor site of exon 2 (e3i3) of roraa.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Embryos at 1- to 4-cell stage were injected with 7ng of splice blocking morpholino targeting the splice donor site of exon 2 (e3i3) of roraa.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Embryos at 1- to 4-cell stage were injected with 8ng of splice blocking morpholino targeting the splice donor site of exon 2 (e3i3) of roraa.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
F0 mutant zebrafish were generated using CRISPR/Cas9 editing targeting exon 5 of roraa-201.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
F0 mutant zebrafish were generated using CRISPR/Cas9 editing targeting exon 8 of roraa-201.
Allele Type: Loss-of-function
Strain of Origin: ZDR (Aquatica BioTech)
Genetic Background: ES Cell Line: Mutant ES Cell Line: Model Source:
