B6.129S7-Del(16Es2el-Ufd1l)217Bld/Cnrm

Status	Available to order
EMMA ID	EM:02122
International strain name	B6.129S7-Del(16Es2el-Ufd1l)217Bld/Cnrm
Alternative name	Df(16)1_Bld
Strain type	Targeted Mutant Strains : Other targeted
Allele/Transgene symbol	Del(16Es2el-Ufd1l)217Bld
Gene/Transgene symbol	Del(16Es2el-Ufd1l)217Bld

Information from provider

Provider	Antonio BALDINI
Provider affiliation	Institute of Genetics and Biophysics (IGB), National Research Council (CNR)
Genetic information	LoxP sites were inserted in trans into genes Es2 and Ufd1l; cre-mediated recombination in ES cells generated a chromosomal deletion named Df(16)1_Bld, and a chromosomal duplication named Dp(16)1_Bld. The two mutations were independently established in mice.
Phenotypic information	5-10% of mutants die at birth because of heart defects (mainly interrupted aortic arch type B).
Breeding history	Backcrossed to C57BL/6 for 12 generations.
References	Congenital heart disease in mice deficient for the DiGeorge syndrome region.;Lindsay E A, Botta A, Jurecic V, Carattini-Rivera S, Cheah Y C, Rosenblatt H M, Bradley A, Baldini A, ;1999;Nature;401;379-83; 10517636 Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.;Paylor R, McIlwain K L, McAninch R, Nellis A, Yuva-Paylor L A, Baldini A, Lindsay E A, ;2001;Human molecular genetics;10;2645-50; 11726551 Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.;Paylor Richard, Glaser Beate, Mupo Annalisa, Ataliotis Paris, Spencer Corinne, Sobotka Angela, Sparks Chelsey, Choi Chul-Hee, Oghalai John, Curran Sarah, Murphy Kieran C, Monks Stephen, Williams Nigel, O'Donovan Michael C, Owen Michael J, Scambler Peter J, Lindsay Elizabeth, ;2006;Proceedings of the National Academy of Sciences of the United States of America;103;7729-34; 16684884

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

MGI phenotypes (allele matching)

decreased prepulse inhibition / MGI
enhanced long term potentiation / MGI
abnormal brain interneuron morphology / MGI
abnormal neuronal migration / MGI
abnormal neuron proliferation / MGI
decreased dentate gyrus size / MGI
abnormal heart morphology / MGI
overriding aortic valve / MGI
interrupted aortic arch / MGI
retroesophageal right subclavian artery / MGI
homeostasis/metabolism phenotype / MGI
immune system phenotype / MGI
abnormal fourth pharyngeal arch artery morphology / MGI
ventricular septal defect / MGI
heart right ventricle outflow tract stenosis / MGI
aberrant origin of the right subclavian artery / MGI
neonatal lethality, incomplete penetrance / MGI
absent fourth pharyngeal arch artery / MGI
reproductive system phenotype / MGI
fourth pharyngeal arch artery hypoplasia / MGI
prenatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

abnormal heart morphology / MGI
overriding aortic valve / MGI
enhanced long term potentiation / MGI
abnormal brain interneuron morphology / MGI
interrupted aortic arch / MGI
retroesophageal right subclavian artery / MGI
homeostasis/metabolism phenotype / MGI
immune system phenotype / MGI
reproductive system phenotype / MGI
abnormal neuronal migration / MGI
abnormal fourth pharyngeal arch artery morphology / MGI
decreased prepulse inhibition / MGI
abnormal neuron proliferation / MGI
ventricular septal defect / MGI
heart right ventricle outflow tract stenosis / MGI
aberrant origin of the right subclavian artery / MGI
neonatal lethality, incomplete penetrance / MGI
prenatal lethality, complete penetrance / MGI
decreased dentate gyrus size / MGI
absent fourth pharyngeal arch artery / MGI
fourth pharyngeal arch artery hypoplasia / MGI

Literature references

Congenital heart disease in mice deficient for the DiGeorge syndrome region.;Lindsay E A, Botta A, Jurecic V, Carattini-Rivera S, Cheah Y C, Rosenblatt H M, Bradley A, Baldini A, ;1999;Nature;401;379-83; 10517636
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.;Paylor R, McIlwain K L, McAninch R, Nellis A, Yuva-Paylor L A, Baldini A, Lindsay E A, ;2001;Human molecular genetics;10;2645-50; 11726551
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.;Paylor Richard, Glaser Beate, Mupo Annalisa, Ataliotis Paris, Spencer Corinne, Sobotka Angela, Sparks Chelsey, Choi Chul-Hee, Oghalai John, Curran Sarah, Murphy Kieran C, Monks Stephen, Williams Nigel, O'Donovan Michael C, Owen Michael J, Scambler Peter J, Lindsay Elizabeth, ;2006;Proceedings of the National Academy of Sciences of the United States of America;103;7729-34; 16684884

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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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