C57BL/6N-Rab23^{tm1a(EUCOMM)Wtsi}/H

Status	Available to order
EMMA ID	EM:08807
International strain name	C57BL/6N-Rab23^{tm1a(EUCOMM)Wtsi}/H
Alternative name	EPD0590_2_G11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Rab23^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Rab23
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 EPD0590_2_G11. 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

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Carpenter syndrome / Orphanet_65759

IMPC phenotypes (gene matching)

increased mean platelet volume / IMPC
decreased bone mineral content / IMPC
decreased lean body mass / IMPC
increased circulating aspartate transaminase level / IMPC
increased circulating alanine transaminase level / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (gene matching)

polydactyly / MGI
exencephaly / MGI
open neural tube / MGI
abnormal spinal cord morphology / MGI
abnormal dorsal root ganglion morphology / MGI
abnormal lens induction / MGI
abnormal lens vesicle development / MGI
anophthalmia / MGI
abnormal eye morphology / MGI
abnormal axial skeleton morphology / MGI
abnormal neural tube morphology / MGI
absent tibia / MGI
spina bifida / MGI
abnormal neural tube closure / MGI
abnormal forelimb zeugopod morphology / MGI
abnormal hindlimb zeugopod morphology / MGI
abnormal optic cup morphology / MGI
abnormal postnatal subventricular zone morphology / MGI
abnormal tarsal bone morphology / MGI
abnormal vertebral arch development / MGI
spina bifida occulta / MGI
abnormal retinal neuronal layer morphology / MGI
abnormal limb development / MGI
abnormal spinal cord central canal morphology / MGI
abnormal neural tube ventricular layer morphology / MGI
skin detachment / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
incomplete caudal neuropore closure / 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^*
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

Genotyping protocol

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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