C57BL/6N-A^tm1Brd Prps1^{tm1a(EUCOMM)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:08579
International strain name	C57BL/6N-A^tm1Brd Prps1^{tm1a(EUCOMM)Wtsi}/WtsiH
Alternative name	EPD0436_5_A05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Prps1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Prps1
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 EUCOMM ES clone EPD0436_5_A05. 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

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome / Orphanet_423479
Lethal ataxia with deafness and optic atrophy / Orphanet_1187
Severe phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411543
X-linked non-syndromic sensorineural deafness type DFN / Orphanet_90625
X-linked Charcot-Marie-Tooth disease type 5 / Orphanet_99014
Mild phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411536

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC

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

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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INFRAFRONTIER^® and European Mouse Mutant Archive - EMMA^® are registered trademarks at the European Union Intellectual Property Office (EUIPO).

C57BL/6N-Atm1Brd Prps1tm1a(EUCOMM)Wtsi/WtsiH