C57BL/6NTac-H6pd^{tm1a(EUCOMM)Wtsi}/IcsOrl

Status	Available to order
EMMA ID	EM:07643
International strain name	C57BL/6NTac-H6pd^{tm1a(EUCOMM)Wtsi}/IcsOrl
Alternative name	EPD0173_1_C12
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	H6pd^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	H6pd
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	ICS, Institut Clinique de la Souris
Provider affiliation	ICS, Institut Clinique de la Souris
Genetic information	This mouse line originates from EUCOMM ES clone EPD0173_1_C12. 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	None available

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France
Animals used for archiving	heterozygous C57BL/6NTac, wild-type C57BL/6NTac
Stage of embryos	8-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Hyperandrogenism due to cortisone reductase deficiency / Orphanet_168588

IMPC phenotypes (allele matching)

increased startle reflex / IMPC
decreased circulating alkaline phosphatase level / IMPC
abnormal locomotor activation / IMPC
increased circulating aspartate transaminase level / IMPC

IMPC phenotypes (gene matching)

increased circulating aspartate transaminase level / IMPC
increased startle reflex / IMPC
decreased circulating alkaline phosphatase level / IMPC
abnormal locomotor activation / IMPC

MGI phenotypes (gene matching)

enlarged adrenal glands / MGI
decreased body weight / MGI
decreased circulating corticosterone level / MGI
abnormal skeletal muscle fiber morphology / MGI
abnormal response/metabolism to endogenous compounds / MGI
decreased lean body mass / MGI
decreased circulating glucose level / MGI
abnormal enzyme/coenzyme activity / MGI
centrally nucleated skeletal muscle fibers / MGI
skeletal muscle atrophy / MGI
decreased tibialis anterior weight / MGI
decreased quadriceps weight / MGI
increased skeletal muscle glycogen level / MGI

Information on how we integrate external resources can be found here

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

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
Tissue - Types of tissue, 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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