B6Brd;B6N-Tyr^c-Brd Slc52a3^{tm2a(KOMP)Wtsi}/WtsiCnrm

Status	Available to order
EMMA ID	EM:15205
International strain name	B6Brd;B6N-Tyr^c-Brd Slc52a3^{tm2a(KOMP)Wtsi}/WtsiCnrm
Alternative name	EPD0031_1_H07
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Slc52a3^{tm2a(KOMP)Wtsi}
Gene/Transgene symbol	Slc52a3
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 KOMP ES clone EPD0031_1_H07. 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	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

RFVT3-related riboflavin transporter deficiency / Orphanet_572550

IMPC phenotypes (allele matching)

abnormal vibrissa morphology / IMPC
increased circulating bilirubin level / IMPC

IMPC phenotypes (gene matching)

increased circulating bilirubin level / IMPC
abnormal vibrissa morphology / IMPC

MGI phenotypes (allele matching)

increased body weight / MGI
abnormal vibrissa morphology / MGI
hypoglycemia / MGI
decreased body weight / MGI
hyperlipidemia / MGI
premature death / MGI
abnormal lipid homeostasis / MGI
glutaricadicuria / MGI
increased circulating carnitine level / MGI
abnormal vitamin homeostasis / MGI
abnormal placental transport / MGI
decreased placenta weight / MGI
homeostasis/metabolism phenotype / MGI
abnormal vitamin level / MGI
decreased fetal weight / MGI
decreased birth weight / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
decreased food intake / MGI
decreased fatty acid beta-oxidation / MGI

MGI phenotypes (gene matching)

hypoglycemia / MGI
increased body weight / MGI
decreased body weight / MGI
hyperlipidemia / MGI
premature death / MGI
abnormal vibrissa morphology / MGI
abnormal lipid homeostasis / MGI
glutaricadicuria / MGI
increased circulating carnitine level / MGI
abnormal vitamin homeostasis / MGI
abnormal placental transport / MGI
decreased placenta weight / MGI
homeostasis/metabolism phenotype / MGI
abnormal vitamin level / MGI
decreased fetal weight / MGI
decreased birth weight / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
decreased food intake / MGI
decreased fatty acid beta-oxidation / 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

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Availabilities

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

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

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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B6Brd;B6N-Tyrc-Brd Slc52a3tm2a(KOMP)Wtsi/WtsiCnrm