C57BL/6NTac-Smarcal1^{tm1a(EUCOMM)Wtsi}/WtsiIeg

Status	Available to order
EMMA ID	EM:05700
International strain name	C57BL/6NTac-Smarcal1^{tm1a(EUCOMM)Wtsi}/WtsiIeg
Alternative name	EPD0147_4_F03
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Smarcal1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Smarcal1
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 EPD0147_4_F03. 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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	homozygous C57BL/6NTac

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Schimke immuno-osseous dysplasia / Orphanet_1830

IMPC phenotypes (allele matching)

increased hemoglobin content / IMPC

IMPC phenotypes (gene matching)

increased hemoglobin content / IMPC

MGI phenotypes (allele matching)

increased circulating alkaline phosphatase level / MGI
increased mean corpuscular hemoglobin / MGI
increased hemoglobin content / MGI

MGI phenotypes (gene matching)

abnormal long bone hypertrophic chondrocyte zone / MGI
decreased body length / MGI
decreased body weight / MGI
postnatal growth retardation / MGI
albuminuria / MGI
increased circulating alkaline phosphatase level / MGI
no phenotypic analysis / MGI
abnormal long bone epiphyseal plate morphology / MGI
abnormal long bone epiphyseal plate proliferative zone / MGI
short vertebral column / MGI
decreased B cell number / MGI
increased mean corpuscular hemoglobin / MGI
increased hemoglobin content / MGI
increased physiological sensitivity to xenobiotic / MGI
increased sensitivity to induced morbidity/mortality / MGI
decreased fibroblast proliferation / 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^*

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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C57BL/6NTac-Smarcal1tm1a(EUCOMM)Wtsi/WtsiIeg