C57BL/6N-Mfsd8^{tm1a(EUCOMM)Hmgu}/Cnrm

Status	Available to order
EMMA ID	EM:05994
Citation information	RRID:IMSR_EM:05994 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-Mfsd8^{tm1a(EUCOMM)Hmgu}/Cnrm
Alternative name	HEPD0623_4_A06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Mfsd8^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Mfsd8
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	CNR, Consiglio Nazionale delle Ricerche
Provider affiliation	EMMA-Monterotondo Campus International Development, CNR, Consiglio Nazionale delle Ricerche
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0623_4_A06. 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	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

neuronal ceroid lipofuscinosis 7 / DOID:0110722

Orphanet associated rare diseases, based on orthologous gene matching

CLN7 disease / Orphanet_228366

IMPC phenotypes (gene matching)

abnormal retina vasculature morphology / IMPC
abnormal retina morphology / IMPC
increased circulating aspartate transaminase level / IMPC
abnormal coat/hair pigmentation / IMPC
impaired pupillary reflex / IMPC

MGI phenotypes (allele matching)

abnormal myocardial fiber morphology / MGI
abnormal liver morphology / MGI
abnormal spleen morphology / MGI
abnormal kidney morphology / MGI
astrocytosis / MGI
abnormal nervous system morphology / MGI
abnormal lysosome morphology / MGI
CNS inflammation / MGI
retinal photoreceptor degeneration / MGI
microgliosis / MGI

MGI phenotypes (gene matching)

abnormal myocardial fiber morphology / MGI
abnormal liver morphology / MGI
abnormal spleen morphology / MGI
abnormal kidney morphology / MGI
astrocytosis / MGI
abnormal nervous system morphology / MGI
abnormal lysosome morphology / MGI
CNS inflammation / MGI
retinal photoreceptor degeneration / MGI
microgliosis / 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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