C57BL/6N-Cers1^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:11251
Citation information	RRID:IMSR_EM:11251 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6N-Cers1^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0671_2_G02
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Cers1^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Cers1
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	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0671_2_G02. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6NTac (USA) males, heterozygous C57BL/6NTac (USA) females
Breeding at archiving centre	C57BL/6NTac

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Progressive myoclonic epilepsy type 8 / Orphanet_424027

IMPC phenotypes (gene matching)

preweaning lethality, incomplete penetrance / IMPC
increased neutrophil cell number / IMPC

MGI phenotypes (gene matching)

tremors / MGI
small cerebellum / MGI
cerebellum vermis hypoplasia / MGI
Purkinje cell degeneration / MGI
decreased Purkinje cell number / MGI
decreased body weight / MGI
weight loss / MGI
decreased body size / MGI
abnormal anxiety-related response / MGI
ataxia / MGI
hyperactivity / MGI
hypoactivity / MGI
impaired balance / MGI
abnormal lipid level / MGI
seizures / MGI
premature death / MGI
abnormal lipid homeostasis / MGI
decreased brain weight / MGI
gliosis / MGI
abnormal motor learning / MGI
increased neuron apoptosis / MGI
neuron degeneration / MGI
astrocytosis / MGI
abnormal response to novel object / MGI
abnormal spatial working memory / MGI
abnormal Purkinje cell dendrite morphology / MGI
lipofuscinosis / MGI
reduced cerebellar foliation / MGI
mortality/aging / MGI
cerebellum atrophy / MGI

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^*
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

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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C57BL/6N-Cers1tm1a(EUCOMM)Hmgu/H