IMPC phenotypes (gene matching)
B6;129-Ercc6tm1GvhAdh5tm1Stam /H
| Status | Available to order |
| EMMA ID | EM:14674 |
| Citation information | RRID:IMSR_EM:14674 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6;129-Ercc6tm1GvhAdh5tm1Stam /H |
| Alternative name | Csb/Adh5 double KO B6J.129P2-Ercc6 tm1Gvh Adh5 tm1Stam/H |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Ercc6tm1Gvh, Adh5tm1Stam |
| Gene/Transgene symbol | Ercc6, Adh5 |
Information from provider
| Provider | Mulderrig Lee |
| Provider affiliation | Lab of Molecular Biology, MRC |
| Additional owner | Ercc6 |
| Genetic information | Adh5: This is a targeted null mutation. Homologous recombination was used to replace exons 5 and 6 with a neomycin resistance gene. The deleted region encoded most of the coenzyme binding domain. S-nitrosoglutathione reductase activity was undetected in various tissues obtained from homozygous mutant mice. Ercc6: This is a targeted null mutation. Insertion of a floxed neomycin resistance cassette into exon 5 near a site corresponding to a known human mutation disrupted the Ercc6 gene. RT-PCR and Western blot analyses of E13.5 fibroblasts from homozygous mutant animals did not detect wild-type transcript or wild-type protein, but indicate that the mutant allele expresses mRNA at low levels. |
| Phenotypic information | Homozygous:Homozygous double knock-out mice are small and develop ataxia.Heterozygous:To be confirmed. |
| Breeding history | Unspecified number of backcrosses to C57BL/6J. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | unknown |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Cockayne syndrome type 2 / Orphanet_90322
- Cockayne syndrome type 1 / Orphanet_90321
- Cockayne syndrome type 3 / Orphanet_90324
- COFS syndrome / Orphanet_1466
- UV-sensitive syndrome / Orphanet_178338
MGI phenotypes (gene matching)
- increased susceptibility to bacterial infection / MGI
- decreased systemic arterial blood pressure / MGI
- abnormal metabolism / MGI
- increased physiological sensitivity to xenobiotic / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- increased susceptibility to bacterial infection induced morbidity/mortality / MGI
Literature references
- Essential roles of S-nitrosothiols in vascular homeostasis and endotoxic shock.;Liu Limin, Yan Yun, Zeng Ming, Zhang Jian, Hanes Martha A, Ahearn Gregory, McMahon Timothy J, Dickfeld Timm, Marshall Harvey E, Que Loretta G, Stamler Jonathan S, ;2004;Cell;116;617-28; 14980227
- Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response.;Mulderrig Lee, Garaycoechea Juan I, Tuong Zewen K, Millington Christopher L, Dingler Felix A, Ferdinand John R, Gaul Liam, Tadross John A, Arends Mark J, O'Rahilly Stephen, Crossan Gerry P, Clatworthy Menna R, Patel Ketan J, ;2021;Nature;600;158-163; 34819667
- Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.;van der Horst G T, van Steeg H, Berg R J, van Gool A J, de Wit J, Weeda G, Morreau H, Beems R B, van Kreijl C F, de Gruijl F R, Bootsma D, Hoeijmakers J H, ;1997;Cell;89;425-35; 9150142