C57BL/6N-A^tm1Brd Prrt2^{tm1a(KOMP)Wtsi}/WtsiPh

Status	Available to order
EMMA ID	EM:09890
International strain name	C57BL/6N-A^tm1Brd Prrt2^{tm1a(KOMP)Wtsi}/WtsiPh
Alternative name	EPD0284_6_H06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Prrt2^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Prrt2
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	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from KOMP ES clone EPD0284_6_H06. 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	Institute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Infantile convulsions and choreoathetosis / Orphanet_31709
Paroxysmal non-kinesigenic dyskinesia / Orphanet_98810
Paroxysmal exertion-induced dyskinesia / Orphanet_98811
Paroxysmal kinesigenic dyskinesia / Orphanet_98809
Familial or sporadic hemiplegic migraine / Orphanet_569
Benign familial infantile epilepsy / Orphanet_306

IMPC phenotypes (allele matching)

increased circulating amylase level / IMPC

IMPC phenotypes (gene matching)

short tibia / IMPC
decreased circulating alkaline phosphatase level / IMPC
decreased startle reflex / IMPC
increased circulating amylase level / IMPC
abnormal cued conditioning behavior / IMPC

MGI phenotypes (allele matching)

jerky movement / MGI
jumpy / MGI
increased grooming behavior / MGI
audiogenic seizures / MGI
impaired balance / MGI
abnormal motor capabilities/coordination/movement / MGI
increased susceptibility to pharmacologically induced seizures / MGI
abnormal inhibitory postsynaptic currents / MGI
nervous system phenotype / MGI
abnormal miniature excitatory postsynaptic currents / MGI
abnormal synaptic plasticity / MGI
behavior/neurological phenotype / MGI
thin cerebral cortex / MGI
induced hyperactivity / MGI
retropulsion / MGI
abnormal excitatory synapse morphology / MGI
abnormal inhibitory synapse morphology / MGI

MGI phenotypes (gene matching)

jumpy / MGI
increased grooming behavior / MGI
audiogenic seizures / MGI
impaired balance / MGI
abnormal motor capabilities/coordination/movement / MGI
increased susceptibility to pharmacologically induced seizures / MGI
abnormal inhibitory postsynaptic currents / MGI
nervous system phenotype / MGI
abnormal miniature excitatory postsynaptic currents / MGI
abnormal synaptic plasticity / MGI
behavior/neurological phenotype / MGI
jerky movement / MGI
thin cerebral cortex / MGI
induced hyperactivity / MGI
retropulsion / MGI
abnormal excitatory synapse morphology / MGI
abnormal inhibitory synapse morphology / 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.

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

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

Other EMMA strains

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C57BL/6N-Atm1Brd Prrt2tm1a(KOMP)Wtsi/WtsiPh