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Strain Registration

Strain: SD-Ercc6em1Cgen

Symbol: SD-Ercc6em1Cgen
Strain: SD-Ercc6em1
Substrain: Cgen
RGD ID: 126925978
Citation ID: RRID:RGD_126925978
Ontology ID: RS:0004948
Alleles: Ercc6em1Cgen
Also Known As: SD-Ercc6em1Cgen; CSBR571X/R571X ; SD-Ercc6^[em1Cgen]
Type: mutant
Available Source: Not Available
Origination: Key Laboratory of Neurological Function and Health, School of Basic Medical Science, Guangzhou Medical University, Guangzhou 511436, China.
Description: The CRISPR/Cas9 system was designed to introduce an in-frame amino acid substitution (R571X. CGA > TGA). A silent mutation (ACC to ACG) was also introduced to prevent the binding and re-cutting of the sequence by gRNA after HDR. Founder animals harboring the expected single-nucleotide substitution were bred to produce heterozygous and homozygous rats.The heterozygous rats had phenotypes similar to the wild type littermates.
Genetic Status: Homozygous
Last Known Status: Unknown
Position
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2167,810,692 - 7,810,692RGD_MAPPER_PIPELINEmRatBN7.2
Rnor_6.0168,779,715 - 8,779,715RGD_MAPPER_PIPELINERnor6.0
Rnor_5.01610,699,983 - 10,770,565RGD_MAPPER_PIPELINERnor5.0
RGSC_v3.4168,024,881 - 8,091,587RGD_MAPPER_PIPELINERGSC3.4





Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. Rat Model of Cockayne Syndrome Neurological Disease. Xu Y, etal., Cell Rep. 2019 Oct 22;29(4):800-809.e5. doi: 10.1016/j.celrep.2019.09.028.

Region

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Ercc6em1Cgen-var1 chr16 7810692 7810692 C T point_mutation mRatBN7.2
Ercc6em1Cgen-var1 chr16 8779715 8779715 C T point_mutation Rnor_6.0
Ercc6em1Cgen-var1 chr16 7821592 7821592 C T point_mutation UTH_Rnor_WKY_Bbb_1.0
Ercc6em1Cgen-var1 chr16 8967583 8967583 C T point_mutation UTH_Rnor_SHRSP_BbbUtx_1.0
Ercc6em1Cgen-var1 chr16 7822635 7822635 C T point_mutation UTH_Rnor_SHR_Utx

Additional Information


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-05-24 SD-Ercc6em1Cgen    SD-Ercc6em1Cgen    Symbol and/or name change 68913 APPROVED