B6Brd;B6N-Tyr^c-Brd Dhcr24^{tm1a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:05079
International strain name	B6Brd;B6N-Tyr^c-Brd Dhcr24^{tm1a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0058_3_A11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Dhcr24^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Dhcr24
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 EPD0058_3_A11. 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

Desmosterolosis / Orphanet_35107

IMPC phenotypes (allele matching)

abnormal behavior / IMPC
increased circulating magnesium level / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
abnormal behavior / IMPC
increased circulating magnesium level / IMPC

MGI phenotypes (allele matching)

decreased circulating triglyceride level / MGI
abnormal behavior / MGI

MGI phenotypes (gene matching)

abnormal circulating cholesterol level / MGI
decreased body weight / MGI
decreased body size / MGI
postnatal growth retardation / MGI
male infertility / MGI
female infertility / MGI
decreased circulating triglyceride level / MGI
abnormal behavior / MGI
decreased circulating cholesterol level / MGI
decreased subcutaneous adipose tissue amount / MGI
abnormal mesenteric fat pad morphology / MGI
prenatal lethality, incomplete penetrance / MGI
testis degeneration / 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
DHCR24, a Key Enzyme of Cholesterol Synthesis, Serves as a Marker Gene of the Mouse Adrenal Gland Inner Cortex.;Zheng Huifei Sophia, Kang Yuan, Lyu Qiongxia, Junghans Kristina, Cleary Courtney, Reid Olivia, Cauthen Greer, Laprocina Karly, Huang Chen-Che Jeff, ;2023;International journal of molecular sciences;24;; 36674444

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

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B6Brd;B6N-Tyrc-Brd Dhcr24tm1a(EUCOMM)Wtsi/WtsiCnbc