B6Brd;B6N-Tyr^c-Brd Adam17^{tm1a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:04475
International strain name	B6Brd;B6N-Tyr^c-Brd Adam17^{tm1a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0051_2_D12
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Adam17^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Adam17
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 EPD0051_2_D12. 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	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Neonatal inflammatory skin and bowel disease / Orphanet_294023

IMPC phenotypes (allele matching)

abnormal vibrissa morphology / IMPC
preweaning lethality, incomplete penetrance / IMPC
hyperplasia / IMPC
extramedullary hemopoiesis / IMPC

IMPC phenotypes (gene matching)

extramedullary hemopoiesis / IMPC
hyperplasia / IMPC
abnormal vibrissa morphology / IMPC
preweaning lethality, incomplete penetrance / IMPC

MGI phenotypes (allele matching)

increased erythrocyte cell number / MGI
increased bone mineral content / MGI
myeloid hyperplasia / MGI
lethality, incomplete penetrance / MGI
abnormal vibrissa morphology / MGI

MGI phenotypes (gene matching)

enlarged heart / MGI
abnormal heart valve morphology / MGI
abnormal mitral valve morphology / MGI
abnormal coat/ hair morphology / MGI
abnormal hair follicle morphology / MGI
abnormal hair follicle orientation / MGI
distorted hair follicle pattern / MGI
waved hair / MGI
abnormal small intestine morphology / MGI
abnormal lung morphology / MGI
abnormal lung development / MGI
pulmonary hypoplasia / MGI
dermatitis / MGI
decreased body length / MGI
weight loss / MGI
decreased body size / MGI
curly vibrissae / MGI
short vibrissae / MGI
anophthalmia / MGI
microphthalmia / MGI
eyelids open at birth / MGI
cataract / MGI
abnormal cornea morphology / MGI
increased incidence of corneal inflammation / MGI
corneal opacity / MGI
corneal scarring / MGI
abnormal retina morphology / MGI
cyanosis / MGI
abnormal blood vessel morphology / MGI
internal hemorrhage / MGI
edema / MGI
respiratory failure / MGI
respiratory distress / MGI
abnormal coat/hair pigmentation / MGI
perinatal lethality / MGI
premature death / MGI
abnormal embryonic tissue morphology / MGI
abnormal eye morphology / MGI
abnormal vibrissa morphology / MGI
no abnormal phenotype detected / MGI
abnormal dendritic cell physiology / MGI
abnormal tricuspid valve morphology / MGI
abnormal atrioventricular valve morphology / MGI
abnormal semilunar valve morphology / MGI
abnormal aortic valve morphology / MGI
abnormal pulmonary valve morphology / MGI
increased heart weight / MGI
thick ventricular wall / MGI
aphakia / MGI
increased erythrocyte cell number / MGI
increased width of hypertrophic chondrocyte zone / MGI
abnormal fetal cardiomyocyte proliferation / MGI
abnormal hair follicle development / MGI
pathological neovascularization / MGI
abnormal lung vasculature morphology / MGI
abnormal trabecula carnea morphology / MGI
absent Schlemm's canal / MGI
absent corneal endothelium / MGI
absent Descemet membrane / MGI
abnormal respiratory conducting tube morphology / MGI
enlarged esophagus / MGI
enlarged myocardial fiber / MGI
skin inflammation / MGI
abnormal brain vasculature morphology / MGI
abnormal trophoblast layer morphology / MGI
abnormal anterior eye segment morphology / MGI
abnormal canal of Schlemm morphology / MGI
digestive/alimentary phenotype / MGI
abnormal platelet physiology / MGI
decreased cornea thickness / MGI
abnormal corneal epithelium morphology / MGI
absent Meibomian glands / MGI
abnormal lung epithelium morphology / MGI
increased susceptibility to induced colitis / MGI
decreased circulating tumor necrosis factor level / MGI
abnormal interleukin secretion / MGI
increased interleukin-10 secretion / MGI
abnormal chemokine level / MGI
decreased survivor rate / MGI
increased heart ventricle size / MGI
decreased transforming growth factor level / MGI
decreased physiological sensitivity to xenobiotic / MGI
abnormal enterocyte proliferation / MGI
failure of eyelid fusion / MGI
decreased fetal weight / MGI
abnormal mammary gland duct morphology / MGI
increased sensitivity to induced morbidity/mortality / MGI
eye opacity / MGI
increased bone mineral content / MGI
increased susceptibility to weight loss / MGI
myeloid hyperplasia / MGI
ventricular septal defect / MGI
increased heart left ventricle size / MGI
enlarged aortic valve / MGI
thick aortic valve cusps / MGI
thick aortic valve / MGI
enlarged pulmonary valve / MGI
thick pulmonary valve / MGI
thick pulmonary valve cusps / MGI
thick tricuspid valve cusps / MGI
mortality/aging / MGI
abnormal lung saccule morphology / MGI
lethality, incomplete penetrance / MGI
dilated respiratory conducting tubes / MGI
pale lung / MGI
abnormal bronchiole epithelium morphology / MGI
abnormal branching involved in lung morphogenesis / MGI
postnatal lethality, complete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
perinatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
thick lung-associated mesenchyme / MGI
anterior iris synechia / MGI
vacuolated lens / MGI
decreased spongiotrophoblast size / MGI
abnormal conjunctival sac morphology / MGI
abnormal eyelid margin morphology / MGI
enhanced leukocyte tethering or rolling / 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 embryos. 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
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d 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

Other EMMA strains

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B6Brd;B6N-Tyrc-Brd Adam17tm1a(EUCOMM)Wtsi/WtsiCnbc