MGI phenotypes (allele matching)
STOCK Atrtm2Ofc/Cnbc
| Status | Available to order |
| EMMA ID | EM:06220 |
| International strain name | STOCK Atrtm2Ofc/Cnbc |
| Alternative name | Atr |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Atrtm2Ofc, |
| Gene/Transgene symbol | Atr |
Information from provider
| Provider | Oskar Fernandez-Capetillo |
| Provider affiliation | Molecular Oncology, Centro Nacional de Investigaciones Oncologicas (CNIO) |
| Genetic information | Exons 8 through 10 were replaced with the corresponding wt human sequence including corresponding introns. |
| Phenotypic information | A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging. PubMed ID: 19620979. |
| Breeding history | Chimeras were crossed with C57BL/6J females for germ line transmission testing. Currently maintained by crossing homozygous mice. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome / Orphanet_313846
- Seckel syndrome / Orphanet_808
- GAPO syndrome / Orphanet_2067
Literature references
- A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging.;Murga Matilde, Bunting Samuel, Montaña Maria F, Soria Rebeca, Mulero Francisca, Cañamero Marta, Lee Youngsoo, McKinnon Peter J, Nussenzweig Andre, Fernandez-Capetillo Oscar, ;2009;Nature genetics;41;891-8; 19620979