C57BL/6N-Rpe65^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:04900
International strain name	C57BL/6N-Rpe65^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0553_2_C10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Rpe65^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Rpe65
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 HEPD0553_2_C10. 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
Breeding at archiving centre	Chimeras were mated to C57BL/6N Tac USA, and maintained on this background thereafter.

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Leber congenital amaurosis / Orphanet_65
Retinitis pigmentosa / Orphanet_791
Severe early-childhood-onset retinal dystrophy / Orphanet_364055

IMPC phenotypes (allele matching)

abnormal pupil morphology / IMPC
abnormal retina morphology / IMPC
increased startle reflex / IMPC
limb grasping / IMPC
abnormal behavior / IMPC
impaired pupillary reflex / IMPC

IMPC phenotypes (gene matching)

increased startle reflex / IMPC
abnormal pupil morphology / IMPC
limb grasping / IMPC
impaired pupillary reflex / IMPC
abnormal retina morphology / IMPC
abnormal behavior / IMPC

MGI phenotypes (gene matching)

retinal degeneration / MGI
delayed dark adaptation / MGI
abnormal photoreceptor outer segment morphology / MGI
abnormal rod electrophysiology / MGI
abnormal cone electrophysiology / MGI
abnormal retinal pigmentation / MGI
abnormal retinal pigment epithelium morphology / MGI
abnormal eye physiology / MGI
abnormal eye electrophysiology / MGI
retinal cone cell degeneration / MGI
retinal photoreceptor degeneration / MGI
retinal rod cell degeneration / MGI
abnormal retinal rod cell outer segment morphology / MGI
thin retinal outer nuclear layer / MGI
retinal outer nuclear layer degeneration / MGI
short photoreceptor inner segment / MGI
photoreceptor outer segment degeneration / MGI
disorganized photoreceptor outer segment / MGI
short photoreceptor outer segment / MGI
abnormal vitamin A metabolism / MGI
retinal spots / 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^*
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
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-Rpe65tm1a(EUCOMM)Hmgu/H