Ercc6<sup>em1Cgen</sup> (ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen) - Rat Genome Database

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Gene: Ercc6em1Cgen (ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen) Rattus norvegicus
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Symbol: Ercc6em1Cgen
Name: ERCC excision repair 6, chromatin remodeling factor; CRISPR/Cas9 induced mutant 1, Cgen
RGD ID: 126925980
Description: The CRISPR/Cas9 system was designed to introduce an in-frame amino acid substitution (R571X. CGA > TGA) to SD embryos.
ASSOCIATED WITH abnormal base-excision repair; abnormal cerebellar cortex morphology; astrocytosis; ASSOCIATED WITH Cockayne syndrome B
Type: allele  of Ercc6  
Previously known as: Ercc6^[em1Cgen]
Is Marker For: Strains:   SD-Ercc6em1Cgen  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


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.

Genomics

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

Related Rat Strains
The following Strains have been annotated to Ercc6em1Cgen
SD-Ercc6em1Cgen    


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences


Additional Information