B6Brd;B6N-Tyr^c-Brd Abhd5^{tm1a(KOMP)Wtsi}/WtsiOrl

Status	Available to order
EMMA ID	EM:15228
International strain name	B6Brd;B6N-Tyr^c-Brd Abhd5^{tm1a(KOMP)Wtsi}/WtsiOrl
Alternative name	EPD0081_5_E07
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Abhd5^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Abhd5
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 EPD0081_5_E07. 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 A gene expression resource generated by genome-wide lacZ profiling in the mouse.;Tuck Elizabeth, Estabel Jeanne, Oellrich Anika, Maguire Anna Karin, Adissu Hibret A, Souter Luke, Siragher Emma, Lillistone Charlotte, Green Angela L, Wardle-Jones Hannah, Carragher Damian M, Karp Natasha A, Smedley Damian, Adams Niels C, null null, Bussell James N, Adams David J, Ramírez-Solis Ramiro, Steel Karen P, Galli Antonella, White Jacqueline K, ;2015;Disease models & mechanisms;8;1467-78; 26398943

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France
Animals used for archiving	homozygous B6Brd;B6N-Tyrc-Brd

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Neutral lipid storage disease with ichthyosis / Orphanet_98907

IMPC phenotypes (allele matching)

abnormal snout morphology / IMPC
abnormal maxilla morphology / IMPC
decreased body weight / IMPC
lipid deposition / IMPC

IMPC phenotypes (gene matching)

lipid deposition / IMPC
decreased body weight / IMPC
abnormal maxilla morphology / IMPC
abnormal snout morphology / IMPC

MGI phenotypes (allele matching)

abnormal Sertoli cell morphology / MGI
increased trabecular bone thickness / MGI
decreased bone trabecula number / MGI
decreased body weight / MGI

MGI phenotypes (gene matching)

hyperkeratosis / MGI
decreased body length / MGI
decreased body weight / MGI
abnormal lipid level / MGI
neonatal lethality / MGI
abnormal lipid homeostasis / MGI
abnormal granulocyte morphology / MGI
hepatic steatosis / MGI
decreased circulating triglyceride level / MGI
abnormal keratinocyte differentiation / MGI
abnormal Sertoli cell morphology / MGI
impaired skin barrier function / MGI
abnormal skin development / MGI
decreased fatty acid level / MGI
increased triglyceride level / MGI
abnormal skin physiology / MGI
decreased circulating glucose level / MGI
impaired lipolysis / MGI
increased trabecular bone thickness / MGI
increased liver triglyceride level / MGI
epidermis stratum spinosum hyperplasia / MGI
decreased birth weight / MGI
decreased birth body size / MGI
decreased bone trabecula number / MGI
decreased triglyceride lipase activity / MGI
abnormal ceramide 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
A gene expression resource generated by genome-wide lacZ profiling in the mouse.;Tuck Elizabeth, Estabel Jeanne, Oellrich Anika, Maguire Anna Karin, Adissu Hibret A, Souter Luke, Siragher Emma, Lillistone Charlotte, Green Angela L, Wardle-Jones Hannah, Carragher Damian M, Karp Natasha A, Smedley Damian, Adams Niels C, null null, Bussell James N, Adams David J, Ramírez-Solis Ramiro, Steel Karen P, Galli Antonella, White Jacqueline K, ;2015;Disease models & mechanisms;8;1467-78; 26398943

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^*

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 Abhd5tm1a(KOMP)Wtsi/WtsiOrl