- 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 |
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
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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