B6Brd;B6N-Tyr^c-Brd Sptbn1^{tm1a(EUCOMM)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:06042
International strain name	B6Brd;B6N-Tyr^c-Brd Sptbn1^{tm1a(EUCOMM)Wtsi}/WtsiH
Alternative name	EPD0065_1_F10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Sptbn1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Sptbn1
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 EPD0065_1_F10. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6NTac
Breeding at archiving centre	Frozen samples received. No breeding at archiving centre. Due to the possible presence of C57BL/6J-Tyr^c-Brd, may produce albino pups.

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Non-specific syndromic intellectual disability / Orphanet_528084

IMPC phenotypes (allele matching)

decreased body weight / IMPC
decreased circulating serum albumin level / IMPC
decreased total body fat amount / IMPC

IMPC phenotypes (gene matching)

decreased body weight / IMPC
decreased circulating serum albumin level / IMPC
decreased total body fat amount / IMPC

MGI phenotypes (allele matching)

decreased circulating LDL cholesterol level / MGI
decreased circulating HDL cholesterol level / MGI
decreased body weight / MGI
decreased circulating alanine transaminase level / MGI
decreased circulating cholesterol level / MGI
decreased circulating serum albumin level / MGI
decreased circulating total protein level / MGI
decreased lactate dehydrogenase level / MGI
abnormal heart development / MGI
edema / MGI
hemorrhage / MGI
small heart / MGI
decreased mitotic index / MGI
abnormal fetal cardiomyocyte morphology / MGI
ventricular septal defect / MGI
myocardial trabeculae hypoplasia / MGI
thin ventricle myocardium compact layer / MGI
absent coronary vessels / MGI
increased fetal cardiomyocyte apoptosis / MGI
decreased fetal cardiomyocyte proliferation / MGI
abnormal heart ventricle wall thickness / MGI

MGI phenotypes (gene matching)

decreased circulating LDL cholesterol level / MGI
decreased circulating HDL cholesterol level / MGI
abnormal heart development / MGI
enlarged heart / MGI
abnormal myocardial fiber morphology / MGI
alopecia / MGI
abnormal craniofacial morphology / MGI
abnormal digestive system morphology / MGI
abnormal liver morphology / MGI
liver hypoplasia / MGI
abnormal brain development / MGI
enlarged testis / MGI
decreased body weight / MGI
increased body size / MGI
decreased embryo size / MGI
edema / MGI
hemorrhage / MGI
increased lung adenocarcinoma incidence / MGI
increased sarcoma incidence / MGI
increased carcinoma incidence / MGI
premature death / MGI
abnormal outer ear morphology / MGI
small heart / MGI
decreased circulating alanine transaminase level / MGI
enlarged kidney / MGI
abnormal vitelline vasculature morphology / MGI
increased hepatocellular carcinoma incidence / MGI
decreased hepatocyte proliferation / MGI
decreased mitotic index / MGI
decreased circulating cholesterol level / MGI
abnormal heart ventricle morphology / MGI
decreased circulating serum albumin level / MGI
decreased circulating total protein level / MGI
decreased lactate dehydrogenase level / MGI
increased testis tumor incidence / MGI
increased ovary tumor incidence / MGI
increased liver tumor incidence / MGI
abnormal fetal cardiomyocyte morphology / MGI
increased tongue size / MGI
increased glioma incidence / MGI
increased thyroid carcinoma incidence / MGI
increased adrenal cortical tumor incidence / MGI
increased adenoma incidence / MGI
increased renal carcinoma incidence / MGI
ventricular septal defect / MGI
myocardial trabeculae hypoplasia / MGI
thin ventricle myocardium compact layer / MGI
absent coronary vessels / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
increased fetal cardiomyocyte apoptosis / MGI
decreased fetal cardiomyocyte proliferation / MGI
increased lymphoma incidence / MGI
adrenal gland cyst / MGI
visceromegaly / MGI
abnormal heart ventricle wall thickness / 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

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 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
Tissue - Types of tissue, 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)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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B6Brd;B6N-Tyrc-Brd Sptbn1tm1a(EUCOMM)Wtsi/WtsiH