- decreased circulating glucose level / IMPC
- abnormal spinal cord morphology / IMPC
- embryonic lethality prior to organogenesis / IMPC
- increased fasting circulating glucose level / IMPC
- embryonic lethality prior to tooth bud stage / IMPC
- preweaning lethality, complete penetrance / IMPC
- increased heart weight / IMPC
STOCK Atrtm2Ofc/Cnbc
Status | Available to order |
EMMA ID | EM:06220 |
Citation information | RRID:IMSR_EM:06220 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 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 males |
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
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- osteoporosis / MGI
- abnormal fontanelle morphology / MGI
- malocclusion / MGI
- kyphosis / MGI
- decreased bone marrow cell number / MGI
- decreased hair follicle number / MGI
- microcephaly / MGI
- decreased brain size / MGI
- thin epidermis / MGI
- decreased body length / MGI
- decreased body weight / MGI
- abnormal placenta morphology / MGI
- abnormal oogenesis / MGI
- neoplasm / MGI
- increased tumor incidence / MGI
- abnormal coat/hair pigmentation / MGI
- premature death / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- decreased brain weight / MGI
- abnormal astrocyte morphology / MGI
- absent corpus callosum / MGI
- abnormal nose morphology / MGI
- abnormal bone marrow morphology / MGI
- micrognathia / MGI
- abnormal cranial suture morphology / MGI
- abnormal cell cycle / MGI
- decreased liver weight / MGI
- premature aging / MGI
- spontaneous chromosome breakage / MGI
- induced chromosome breakage / MGI
- small thoracic cavity / MGI
- decreased mitotic index / MGI
- absent oocytes / MGI
- abnormal hematopoietic stem cell morphology / MGI
- decreased testis weight / MGI
- decreased ovary weight / MGI
- decreased spleen weight / MGI
- decreased thymus weight / MGI
- cachexia / MGI
- pancytopenia / MGI
- growth/size/body region phenotype / MGI
- craniofacial phenotype / MGI
- decreased lung weight / MGI
- increased apoptosis / MGI
- early cellular replicative senescence / MGI
- abnormal DNA replication / MGI
- increased cellular sensitivity to methylmethanesulfonate / MGI
- increased cellular sensitivity to ultraviolet irradiation / MGI
- proportional dwarf / MGI
- abnormal primary ovarian follicle morphology / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- abnormal head shape / MGI
- abnormal head size / MGI
- increased fibroblast apoptosis / MGI
- sloping forehead / MGI
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
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