B6Brd;B6N-Tyr^c-Brd Nsun2^{tm1a(EUCOMM)Wtsi}/WtsiOulu

Status	Available to order
EMMA ID	EM:05516
International strain name	B6Brd;B6N-Tyr^c-Brd Nsun2^{tm1a(EUCOMM)Wtsi}/WtsiOulu
Alternative name	EPD0105_2_F10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Nsun2^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Nsun2
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 EPD0105_2_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 Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.;DiTommaso Tia, Jones Lynelle K, Cottle Denny L, null null, Gerdin Anna-Karin, Vancollie Valerie E, Watt Fiona M, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, Sundberg John P, White Jacqueline K, Smyth Ian M, ;2014;PLoS genetics;10;e1004705; 25340873

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive non-syndromic intellectual disability / Orphanet_88616
Dubowitz syndrome / Orphanet_235

IMPC phenotypes (allele matching)

abnormal cranium morphology / IMPC
abnormal snout morphology / IMPC
decreased body weight / IMPC
abnormal cornea morphology / IMPC
excessive tearing / IMPC
abnormal gait / IMPC
abnormal response to new environment / IMPC
abnormal tooth morphology / IMPC
abnormal eye size / IMPC
abnormal joint morphology / IMPC
abnormal humerus morphology / IMPC
preweaning lethality, incomplete penetrance / IMPC
hypoplasia / IMPC
process of degenerative change / IMPC
developmental and structural abnormality / IMPC
synechia / IMPC

IMPC phenotypes (gene matching)

abnormal snout morphology / IMPC
abnormal gait / IMPC
hypoplasia / IMPC
process of degenerative change / IMPC
abnormal eye size / IMPC
decreased body weight / IMPC
abnormal humerus morphology / IMPC
excessive tearing / IMPC
abnormal joint morphology / IMPC
synechia / IMPC
preweaning lethality, incomplete penetrance / IMPC
abnormal cornea morphology / IMPC
developmental and structural abnormality / IMPC
abnormal response to new environment / IMPC
abnormal cranium morphology / IMPC
abnormal tooth morphology / IMPC

MGI phenotypes (allele matching)

decreased circulating amylase level / MGI
abnormal hair cycle / MGI
abnormal epidermis stratum basale morphology / MGI
decreased body size / MGI
male infertility / MGI
decreased bone mineral density / MGI
kyphosis / MGI
lordosis / MGI
decreased circulating LDL cholesterol level / MGI
decreased circulating HDL cholesterol level / MGI
abnormal cranium morphology / MGI
abnormal snout morphology / MGI
abnormal liver physiology / MGI
decreased body length / MGI
decreased body weight / MGI
abnormal lens morphology / MGI
cataract / MGI
abnormal cornea morphology / MGI
hyperactivity / MGI
abnormal tooth morphology / MGI
abnormal fertility/fecundity / MGI
decreased mean corpuscular volume / MGI
oligozoospermia / MGI
decreased circulating free fatty acid level / MGI
abnormal joint morphology / MGI
increased erythrocyte cell number / MGI
decreased circulating glycerol level / MGI
decreased lean body mass / MGI
abnormal spine curvature / MGI
abnormal deltoid tuberosity morphology / MGI
decreased length of long bones / MGI
increased energy expenditure / MGI
decreased energy expenditure / MGI
decreased circulating cholesterol level / MGI
increased oxygen consumption / MGI
improved glucose tolerance / MGI
abnormal humerus morphology / MGI
decreased percent body fat/body weight / MGI
decreased circulating glucose level / MGI
decreased mean corpuscular hemoglobin / MGI
abnormal hair cycle anagen phase / MGI
abnormal hair shedding / MGI
increased carbon dioxide production / MGI
decreased total body fat amount / MGI
decreased grip strength / MGI
decreased bone mineral content / MGI
lethality, incomplete penetrance / MGI
testis degeneration / MGI
abnormal rib morphology / MGI
abnormal forebrain morphology / MGI
abnormal dorsal root ganglion morphology / MGI
small superior cervical ganglion / MGI
abnormal testis morphology / MGI
abnormal thymus capsule morphology / MGI
abnormal eye muscle morphology / MGI
retroesophageal right subclavian artery / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
basisphenoid bone foramen / MGI
fusion of vertebral arches / MGI
absent stapedial artery / MGI
thoracoschisis / MGI
abnormal optic chiasm morphology / MGI
abnormal systemic artery morphology / MGI
absent hypoglossal canal / MGI
thin hypoglossal nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
absent segment of posterior cerebral artery / MGI
ductus venosus stenosis / MGI
subcutaneous edema / MGI
trigeminal neuroma / MGI
absent ductus venosus valve / MGI
abnormal ductus venosus valve morphology / MGI
thin motoric part of trigeminal nerve / MGI
intraembryonal intestine elongation / MGI
abnormal infrahyoid muscle connection / MGI
reduced sympathetic cervical ganglion size / MGI
persistent dorsal ophthalmic artery / MGI
abnormal external carotid artery origin / MGI
abnormal vertebral artery topology / MGI

MGI phenotypes (gene matching)

decreased bone mineral density / MGI
abnormal rib morphology / MGI
kyphosis / MGI
lordosis / MGI
decreased circulating LDL cholesterol level / MGI
decreased circulating HDL cholesterol level / MGI
alopecia / MGI
abnormal hair cycle / MGI
abnormal cranium morphology / MGI
abnormal snout morphology / MGI
abnormal liver physiology / MGI
abnormal forebrain morphology / MGI
abnormal dorsal root ganglion morphology / MGI
small superior cervical ganglion / MGI
abnormal testis morphology / MGI
abnormal epidermis stratum basale morphology / MGI
decreased body length / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal lens morphology / MGI
cataract / MGI
abnormal cornea morphology / MGI
hyperactivity / MGI
male infertility / MGI
abnormal tooth morphology / MGI
abnormal fertility/fecundity / MGI
abnormal thymus capsule morphology / MGI
decreased mean corpuscular volume / MGI
oligozoospermia / MGI
decreased circulating free fatty acid level / MGI
abnormal joint morphology / MGI
increased erythrocyte cell number / MGI
decreased circulating glycerol level / MGI
abnormal eye muscle morphology / MGI
decreased lean body mass / MGI
retroesophageal right subclavian artery / MGI
abnormal spine curvature / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
abnormal deltoid tuberosity morphology / MGI
basisphenoid bone foramen / MGI
fusion of vertebral arches / MGI
absent stapedial artery / MGI
decreased length of long bones / MGI
increased energy expenditure / MGI
decreased energy expenditure / MGI
decreased circulating cholesterol level / MGI
increased oxygen consumption / MGI
improved glucose tolerance / MGI
abnormal humerus morphology / MGI
decreased percent body fat/body weight / MGI
decreased circulating glucose level / MGI
decreased mean corpuscular hemoglobin / MGI
decreased circulating amylase level / MGI
abnormal hair cycle anagen phase / MGI
abnormal hair shedding / MGI
thoracoschisis / MGI
increased carbon dioxide production / MGI
abnormal optic chiasm morphology / MGI
decreased total body fat amount / MGI
decreased grip strength / MGI
decreased bone mineral content / MGI
lethality, incomplete penetrance / MGI
abnormal systemic artery morphology / MGI
testis degeneration / MGI
absent hypoglossal canal / MGI
thin hypoglossal nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
absent segment of posterior cerebral artery / MGI
ductus venosus stenosis / MGI
subcutaneous edema / MGI
trigeminal neuroma / MGI
absent ductus venosus valve / MGI
abnormal ductus venosus valve morphology / MGI
thin motoric part of trigeminal nerve / MGI
intraembryonal intestine elongation / MGI
abnormal infrahyoid muscle connection / MGI
reduced sympathetic cervical ganglion size / MGI
persistent dorsal ophthalmic artery / MGI
abnormal external carotid artery origin / MGI
abnormal vertebral artery topology / MGI
persistent trigeminal artery / 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
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.;DiTommaso Tia, Jones Lynelle K, Cottle Denny L, null null, Gerdin Anna-Karin, Vancollie Valerie E, Watt Fiona M, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, Sundberg John P, White Jacqueline K, Smyth Ian M, ;2014;PLoS genetics;10;e1004705; 25340873

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 embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
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

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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B6Brd;B6N-Tyrc-Brd Nsun2tm1a(EUCOMM)Wtsi/WtsiOulu