C57BL/6NCrl-Pex1^{tm1e.1(EUCOMM)Hmgu}/Ieg

Status	Available to order
EMMA ID	EM:11529
International strain name	C57BL/6NCrl-Pex1^{tm1e.1(EUCOMM)Hmgu}/Ieg
Alternative name	HEPD0622_7_A07
Strain type	Targeted Mutant Strains : Targeted Non-conditional
Allele/Transgene symbol	Pex1^{tm1e.1(EUCOMM)Hmgu}
Gene/Transgene symbol	Pex1
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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0622_7_A07. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele. Click here for more information on EUCOMM final vectors.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C57BL/6N

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Deafness-enamel hypoplasia-nail defects syndrome / Orphanet_3220
Zellweger syndrome / Orphanet_912
Neonatal adrenoleukodystrophy / Orphanet_44
Infantile Refsum disease / Orphanet_772

IMPC phenotypes (allele matching)

abnormal liver morphology / IMPC
dilated heart left ventricle / IMPC
decreased cardiac muscle contractility / IMPC
decreased heart rate / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

decreased heart rate / IMPC
preweaning lethality, complete penetrance / IMPC
dilated heart left ventricle / IMPC
abnormal liver morphology / IMPC
decreased cardiac muscle contractility / IMPC

MGI phenotypes (gene matching)

cholestasis / MGI
decreased body weight / MGI
postnatal growth retardation / MGI
premature death / MGI
hepatic steatosis / MGI
no phenotypic analysis / MGI
bile duct proliferation / MGI
abnormal rod electrophysiology / MGI
abnormal cone electrophysiology / MGI
increased fatty acid level / MGI
decreased fatty acid level / MGI
increased saturated fatty acid level / MGI
abnormal intestinal lipid absorption / MGI
abnormal bile salt homeostasis / MGI
abnormal circulating phospholipid level / MGI
retinal cone cell degeneration / MGI
abnormal retinal rod cell outer segment morphology / 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.

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

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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