C57BL/6N-Nrxn1^{tm1a(KOMP)Wtsi}/H

Status	Available to order
EMMA ID	EM:09544
International strain name	C57BL/6N-Nrxn1^{tm1a(KOMP)Wtsi}/H
Alternative name	EPD0796_5_E08
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Nrxn1^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Nrxn1
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 KOMP ES clone EPD0796_5_E08. 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

Pitt-Hopkins-like syndrome / Orphanet_221150
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance / Orphanet_600663

IMPC phenotypes (gene matching)

abnormal bone structure / IMPC
tremors / IMPC
increased circulating amylase level / IMPC
decreased circulating alkaline phosphatase level / IMPC
decreased grip strength / IMPC
decreased pulmonary respiratory rate / IMPC
decreased circulating cholesterol level / IMPC
decreased total body fat amount / IMPC
decreased circulating total protein level / IMPC
decreased circulating serum albumin level / IMPC
impaired glucose tolerance / IMPC
decreased fasting circulating glucose level / IMPC
decreased circulating HDL cholesterol level / IMPC
increased lean body mass / IMPC
increased circulating aspartate transaminase level / IMPC

MGI phenotypes (gene matching)

increased grooming behavior / MGI
abnormal nest building behavior / MGI
no abnormal phenotype detected / MGI
abnormal motor learning / MGI
abnormal excitatory postsynaptic currents / MGI
abnormal nervous system physiology / MGI
decreased synaptic glutamate release / MGI
abnormal miniature excitatory postsynaptic currents / MGI
behavior/neurological phenotype / MGI
decreased prepulse inhibition / 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

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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C57BL/6N-Nrxn1tm1a(KOMP)Wtsi/H