| Status | Available to order |
| EMMA ID | EM:06221 |
| 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 |
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
