RGD Reference Report - Rat Model of Cockayne Syndrome Neurological Disease. - Rat Genome Database

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Rat Model of Cockayne Syndrome Neurological Disease.

Authors: Xu, Yingying  Wu, Zhenzhen  Liu, Lingyun  Liu, Jiena  Wang, Yuming 
Citation: Xu Y, etal., Cell Rep. 2019 Oct 22;29(4):800-809.e5. doi: 10.1016/j.celrep.2019.09.028.
RGD ID: 126925983
Pubmed: PMID:31644904   (View Abstract at PubMed)
DOI: DOI:10.1016/j.celrep.2019.09.028   (Journal Full-text)

Cockayne syndrome (CS) is a rare genetic neurodevelopmental disorder, characterized by a deficiency in transcription-coupled subpathway of nucleotide excision DNA repair (TC-NER). Mutation of the Cockayne syndrome B (CSB) gene affects basal transcription, which is considered a major cause of CS neurologic dysfunction. Here, we generate a rat model by mimicking a nonsense mutation in the CSB gene. In contrast to that of the Csb-/- mouse models, the brains of the CSB-deficient rats are more profoundly affected. The cerebellar cortex shows significant atrophy and dysmyelination. Aberrant foliation of the cerebellum and deformed hippocampus are visible. The white matter displays high glial fibrillary acidic protein (GFAP) staining indicative of reactive astrogliosis. RNA sequencing (RNA-seq) analysis reveals that CSB deficiency affects the expression of hundreds of genes, many of which are neuronal genes, suggesting that transcription dysregulation could contribute to the neurologic disease seen in the CSB rat models.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ERCC6HumanCockayne syndrome B  ISOErcc6 (Rattus norvegicus) RGD 
Ercc6RatCockayne syndrome B  IMP  RGD 
Ercc6MouseCockayne syndrome B  ISOErcc6 (Rattus norvegicus) RGD 
Ercc6em1CgenRatCockayne syndrome B  IMP  RGD 
SD-Ercc6em1CgenRatCockayne syndrome B  IMP  RGD 

Gene Ontology Annotations    Click to see Annotation Detail View

Biological Process

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Ercc6RatDNA protection  IMP  RGD 
Ercc6Ratregulation of transcription elongation by RNA polymerase II  IMP  RGD 
Ercc6Rattranscription-coupled nucleotide-excision repair  IMP  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ercc6  (ERCC excision repair 6, chromatin remodeling factor)
Ercc6em1Cgen  (ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen)

Genes (Mus musculus)
Ercc6  (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Genes (Homo sapiens)
ERCC6  (ERCC excision repair 6, chromatin remodeling factor)

Strains
SD-Ercc6em1Cgen  (NA)


Additional Information