| Status | Available to order |
| EMMA ID | EM:06221 |
| Citation information | RRID:IMSR_EM:06221 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 | STOCK Atrtm1Ofc/Cnbc |
| Alternative name | Atr |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Atrtm1Ofc |
| Gene/Transgene symbol | Atr |
| 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 human sequences including corresponding introns. In addition, exon 9 contains an A to G transition that mimics the mutation found in patients with Seckel syndrome. This mutation results in the skipping of this exon through abnormal splicing. |
| Phenotypic information | Mouse model of Seckel syndrome. Severe dwarfism, microcephaly, reduced brain size, absence of oocytes in adult females. Premature aging and short lifespan (6 months). |
| Breeding history | Chimeras were crossed with C57BL/6J females for germ line transmission testing. Currently maintained by crossing heterozygous mice. Homozygous mice are viable but have short life span. |
| References |
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| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6J males |
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
