STOCK Atr^tm1Ofc/Cnbc

Status	Available to order
EMMA ID	EM:06221
International strain name	STOCK Atr^tm1Ofc/Cnbc
Alternative name	Atr
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Atr^tm1Ofc,
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 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	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 ATR suppresses telomere fragility and recombination but is dispensable for elongation of short telomeres by telomerase.;McNees Carolyn J, Tejera Agueda M, Martínez Paula, Murga Matilde, Mulero Francisca, Fernandez-Capetillo Oscar, Blasco Maria A, ;2010;The Journal of cell biology;188;639-52; 20212315 Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.;Ugalde Alejandro P, Ramsay Andrew J, de la Rosa Jorge, Varela Ignacio, Mariño Guillermo, Cadiñanos Juan, Lu Jun, Freije José Mp, López-Otín Carlos, ;2011;The EMBO journal;30;2219-32; 21522133 Oncogenic stress sensitizes murine cancers to hypomorphic suppression of ATR.;Schoppy David W, Ragland Ryan L, Gilad Oren, Shastri Nishita, Peters Ashley A, Murga Matilde, Fernandez-Capetillo Oscar, Diehl J Alan, Brown Eric J, ;2012;The Journal of clinical investigation;122;241-52; 22133876 An extra allele of Chk1 limits oncogene-induced replicative stress and promotes transformation.;López-Contreras Andres J, Gutierrez-Martinez Paula, Specks Julia, Rodrigo-Perez Sara, Fernandez-Capetillo Oscar, ;2012;The Journal of experimental medicine;209;455-61; 22370720
Homozygous fertile	no
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

MGI allele-associated human disease models

Seckel syndrome / DOID:0050569

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

MGI phenotypes (allele 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
abnormal coat/hair pigmentation / MGI
premature death / MGI
abnormal brain morphology / 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
small thoracic cavity / 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
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
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
ATR suppresses telomere fragility and recombination but is dispensable for elongation of short telomeres by telomerase.;McNees Carolyn J, Tejera Agueda M, Martínez Paula, Murga Matilde, Mulero Francisca, Fernandez-Capetillo Oscar, Blasco Maria A, ;2010;The Journal of cell biology;188;639-52; 20212315
Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53.;Ugalde Alejandro P, Ramsay Andrew J, de la Rosa Jorge, Varela Ignacio, Mariño Guillermo, Cadiñanos Juan, Lu Jun, Freije José Mp, López-Otín Carlos, ;2011;The EMBO journal;30;2219-32; 21522133
Oncogenic stress sensitizes murine cancers to hypomorphic suppression of ATR.;Schoppy David W, Ragland Ryan L, Gilad Oren, Shastri Nishita, Peters Ashley A, Murga Matilde, Fernandez-Capetillo Oscar, Diehl J Alan, Brown Eric J, ;2012;The Journal of clinical investigation;122;241-52; 22133876
An extra allele of Chk1 limits oncogene-induced replicative stress and promotes transformation.;López-Contreras Andres J, Gutierrez-Martinez Paula, Specks Julia, Rodrigo-Perez Sara, Fernandez-Capetillo Oscar, ;2012;The Journal of experimental medicine;209;455-61; 22370720

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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STOCK Atrtm1Ofc/Cnbc