B6Brd;B6N-Tyr^c-Brd Spns2^{tm1a(KOMP)Wtsi}/Wtsi

Status	Available to order
EMMA ID	EM:12059
International strain name	B6Brd;B6N-Tyr^c-Brd Spns2^{tm1a(KOMP)Wtsi}/Wtsi
Alternative name	EPD0090_5_B04
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Spns2^{tm1a(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.
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 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 Reversal of an existing hearing loss by gene activation in Spns2 mutant mice.;Martelletti Elisa, Ingham Neil J, Steel Karen P, ;2023;Proceedings of the National Academy of Sciences of the United States of America;120;e2307355120; 37552762

Information from EMMA

Archiving centre	Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Animals used for archiving	homozygous 0

Disease and phenotype information

IMPC phenotypes (allele matching)

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

increased monocyte cell number / MGI
decreased leukocyte cell number / MGI
increased granulocyte number / MGI
microphthalmia / 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
increased bone strength / MGI
abnormal iridocorneal angle / MGI
abnormal auditory brainstem response / MGI
decreased B-1 B 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
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
decreased follicular B cell number / MGI
decreased mature B cell number / MGI
decreased IgG1 level / MGI
eye opacity / MGI
increased bone mineral content / MGI
abnormal behavior / 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

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
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
Reversal of an existing hearing loss by gene activation in Spns2 mutant mice.;Martelletti Elisa, Ingham Neil J, Steel Karen P, ;2023;Proceedings of the National Academy of Sciences of the United States of America;120;e2307355120; 37552762

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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 Spns2tm1a(KOMP)Wtsi/Wtsi