B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:08571
International strain name	B6Brd;B6Dnk;B6N-Tyr^c-Brd-Spns2^{tm1b(KOMP)Wtsi}/WtsiH
Alternative name	EPD0090_5_B04
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Spns2^{tm1b(KOMP)Wtsi}
Gene/Transgene symbol	Spns2
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 EPD0090_5_B04. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele using an X-linked CMV-Cre driver (EM:05414; C57BL/6N-Hprt^{tm1(CMV-cre)Wtsi}/WtsiOulu) for this purpose. Click here for more information on KOMP final vectors.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	The role of sphingosine-1-phosphate transporter Spns2 in immune system function.;Nijnik Anastasia, Clare Simon, Hale Christine, Chen Jing, Raisen Claire, Mottram Lynda, Lucas Mark, Estabel Jeanne, Ryder Edward, Adissu Hibret, null null, Adams Niels C, Ramirez-Solis Ramiro, White Jacqueline K, Steel Karen P, Dougan Gordon, Hancock Robert E W, ;2012;Journal of immunology (Baltimore, Md. : 1950);189;102-11; 22664872 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.;Chen Jing, Ingham Neil, Kelly John, Jadeja Shalini, Goulding David, Pass Johanna, Mahajan Vinit B, Tsang Stephen H, Nijnik Anastasia, Jackson Ian J, White Jacqueline K, Forge Andrew, Jagger Daniel, Steel Karen P, ;2014;PLoS genetics;10;e1004688; 25356849

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

IMPC phenotypes (allele matching)

decreased leukocyte cell number / IMPC
abnormal cornea morphology / IMPC
corneal opacity / IMPC
abnormal iris morphology / IMPC
trunk curl / IMPC
narrow eye opening / IMPC
corneal vascularization / IMPC
increased mean corpuscular hemoglobin / IMPC
absent pinna reflex / IMPC
decreased bone mineral content / IMPC

IMPC phenotypes (gene matching)

decreased bone mineral content / IMPC
absent pinna reflex / IMPC
corneal vascularization / IMPC
decreased circulating LDL cholesterol level / IMPC
decreased leukocyte cell number / IMPC
decreased circulating HDL cholesterol level / IMPC
corneal opacity / IMPC
decreased circulating glucose level / IMPC
increased circulating creatine kinase level / IMPC
decreased circulating serum albumin level / IMPC
narrow eye opening / IMPC
trunk curl / IMPC
abnormal cornea morphology / IMPC
abnormal eyelid aperture / IMPC
abnormal rib morphology / IMPC
abnormal iris morphology / IMPC
excessive tearing / IMPC
increased mean corpuscular hemoglobin / IMPC
inflammation / IMPC
abnormal eye pigmentation / IMPC
increased thermal nociceptive threshold / IMPC
abnormal eye size / IMPC
increased bone mineral density / IMPC
abnormal eye morphology / IMPC
developmental and structural abnormality / IMPC
increased circulating bilirubin level / IMPC
decreased circulating cholesterol level / IMPC
abnormal pupil morphology / IMPC

MGI phenotypes (allele matching)

decreased B cell number / MGI
increased CD4-positive, alpha beta T cell number / MGI
decreased CD4-positive, alpha beta T cell number / MGI
increased CD8-positive, alpha-beta T cell number / MGI
decreased CD8-positive, alpha-beta T cell number / MGI

MGI phenotypes (gene matching)

abnormal leukocyte cell number / MGI
increased monocyte cell number / MGI
decreased leukocyte cell number / MGI
decreased monocyte cell number / MGI
increased granulocyte number / MGI
abnormal thymus morphology / MGI
decreased thymocyte number / MGI
decreased body weight / MGI
microphthalmia / MGI
eyelids open at birth / MGI
cataract / MGI
small lens / MGI
abnormal cornea morphology / MGI
increased incidence of corneal inflammation / MGI
corneal opacity / MGI
abnormal pupil morphology / MGI
abnormal iris morphology / MGI
abnormal eye pigmentation / MGI
abnormal retina morphology / MGI
abnormal humoral immune response / MGI
decreased IgG level / MGI
increased susceptibility to bacterial infection / MGI
abnormal T cell physiology / MGI
abnormal B cell physiology / MGI
increased bone strength / MGI
abnormal iridocorneal angle / MGI
abnormal auditory brainstem response / MGI
abnormal behavior / MGI
decreased B-1 B cell number / MGI
decreased lymphocyte cell number / MGI
decreased B cell number / MGI
decreased T cell number / MGI
abnormal ciliary body morphology / MGI
eyelids fail to open / MGI
narrow eye opening / MGI
abnormal corneal stroma morphology / MGI
increased circulating bilirubin level / MGI
growth/size/body region phenotype / MGI
immune system phenotype / MGI
corneal vascularization / MGI
decreased circulating glucose level / MGI
absent pinna reflex / MGI
increased NK T cell number / MGI
increased NK cell number / MGI
increased CD4-positive, alpha beta T cell number / MGI
decreased CD4-positive, alpha beta T cell number / MGI
increased CD8-positive, alpha-beta T cell number / MGI
decreased CD8-positive, alpha-beta T cell number / MGI
increased single-positive T cell number / MGI
decreased single-positive T cell number / MGI
decreased follicular B cell number / MGI
decreased mature B cell number / MGI
decreased immature B cell number / MGI
decreased IgG1 level / MGI
decreased survivor rate / MGI
eye opacity / MGI
decreased transitional stage T1 B cell number / MGI
increased bone mineral content / MGI
symblepharon / MGI
abnormal mature B cell number / MGI
decreased sphingosine level / MGI

Literature references

The role of sphingosine-1-phosphate transporter Spns2 in immune system function.;Nijnik Anastasia, Clare Simon, Hale Christine, Chen Jing, Raisen Claire, Mottram Lynda, Lucas Mark, Estabel Jeanne, Ryder Edward, Adissu Hibret, null null, Adams Niels C, Ramirez-Solis Ramiro, White Jacqueline K, Steel Karen P, Dougan Gordon, Hancock Robert E W, ;2012;Journal of immunology (Baltimore, Md. : 1950);189;102-11; 22664872
Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.;Chen Jing, Ingham Neil, Kelly John, Jadeja Shalini, Goulding David, Pass Johanna, Mahajan Vinit B, Tsang Stephen H, Nijnik Anastasia, Jackson Ian J, White Jacqueline K, Forge Andrew, Jagger Daniel, Steel Karen P, ;2014;PLoS genetics;10;e1004688; 25356849

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^*
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;B6Dnk;B6N-Tyrc-Brd-Spns2tm1b(KOMP)Wtsi/WtsiH