B6Dnk;B6N-Otud6b^{tm1a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:05092
International strain name	B6Dnk;B6N-Otud6b^{tm1a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0016_2_H08
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Otud6b^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Otud6b
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from EUCOMM ES clone EPD0016_2_H08. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome / Orphanet_505237

IMPC phenotypes (gene matching)

preweaning lethality, incomplete penetrance / IMPC
increased basophil cell number / IMPC

MGI phenotypes (gene matching)

decreased fetal size / MGI
ventricular septal defect / MGI
perinatal lethality, complete penetrance / MGI

Literature references

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.;Santiago-Sim Teresa, Burrage Lindsay C, Ebstein Frédéric, Tokita Mari J, Miller Marcus, Bi Weimin, Braxton Alicia A, Rosenfeld Jill A, Shahrour Maher, Lehmann Andrea, Cogné Benjamin, Küry Sébastien, Besnard Thomas, Isidor Bertrand, Bézieau Stéphane, Hazart Isabelle, Nagakura Honey, Immken LaDonna L, Littlejohn Rebecca O, Roeder Elizabeth, null null, Kara Bulent, Hardies Katia, Weckhuysen Sarah, May Patrick, Lemke Johannes R, Elpeleg Orly, Abu-Libdeh Bassam, James Kiely N, Silhavy Jennifer L, Issa Mahmoud Y, Zaki Maha S, Gleeson Joseph G, Seavitt John R, Dickinson Mary E, Ljungberg M Cecilia, Wells Sara, Johnson Sara J, Teboul Lydia, Eng Christine M, Yang Yaping, Kloetzel Peter-Michael, Heaney Jason D, Walkiewicz Magdalena A, ;2017;American journal of human genetics;100;676-688; 28343629

Information on how we integrate external resources can be found here

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^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6Dnk;B6N-Otud6btm1a(EUCOMM)Wtsi/WtsiCnbc