129P2/OlaHsd-Rab18^{Gt(EUCE0233a03)Hmgu}/H

Status	Available to order
EMMA ID	EM:04712
International strain name	129P2/OlaHsd-Rab18^{Gt(EUCE0233a03)Hmgu}/H
Alternative name	EUCE0233_A03
Strain type	Gene-trap
Allele/Transgene symbol	Rab18^{Gt(EUCE0233a03)Hmgu}
Gene/Transgene symbol	Rab18
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 EUCE0233_A03. For further details on the construction of this clone see the page at HTGT. Removal of the targeting cassette using Flp recombinase is required to convert the targeted into a conditional allele. Click here for more information on EUCOMM final vectors.
References	None available

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous 129P2/OlaHsd
Breeding at archiving centre	Chimeras were mated to 129P2/OlaHsd and maintained on this background thereafter.

Disease and phenotype information

MGI allele-associated human disease models

Warburg micro syndrome 3 / DOID:0110718

Orphanet associated rare diseases, based on orthologous gene matching

Micro syndrome / Orphanet_2510

IMPC phenotypes (allele matching)

limb grasping / IMPC
decreased circulating creatinine level / IMPC
impaired pupillary reflex / IMPC

IMPC phenotypes (gene matching)

limb grasping / IMPC
impaired pupillary reflex / IMPC
decreased circulating creatinine level / IMPC

MGI phenotypes (allele matching)

perinatal lethality, incomplete penetrance / MGI
weakness / MGI
abnormal neuromuscular synapse morphology / MGI
abnormal eye development / MGI
abnormal pupil morphology / MGI
limb grasping / MGI
abnormal pupillary reflex / MGI
abnormal sciatic nerve morphology / MGI
abnormal nervous system morphology / MGI
increased white fat cell lipid droplet size / MGI
nuclear cataracts / MGI
abnormal cell cytoskeleton morphology / MGI

MGI phenotypes (gene matching)

weakness / MGI
abnormal corpus callosum morphology / MGI
abnormal neuromuscular synapse morphology / MGI
small testis / MGI
decreased body weight / MGI
abnormal eye development / MGI
microphthalmia / MGI
abnormal pupil morphology / MGI
ataxia / MGI
impaired coordination / MGI
abnormal gait / MGI
limb grasping / MGI
increased thermal nociceptive threshold / MGI
abnormal pupillary reflex / MGI
abnormal sciatic nerve morphology / MGI
abnormal nervous system morphology / MGI
abnormal dorsal spinal root morphology / MGI
axon degeneration / MGI
hyporesponsive to tactile stimuli / MGI
optic nerve degeneration / MGI
increased white fat cell lipid droplet size / MGI
nuclear cataracts / MGI
perinatal lethality, incomplete penetrance / MGI
abnormal cell cytoskeleton 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^*
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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