C57BL/6N-Gnao1^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:07005
International strain name	C57BL/6N-Gnao1^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0618_2_G05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Gnao1^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Gnao1
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 HEPD0618_2_G05. 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

Early infantile epileptic encephalopathy / Orphanet_1934
GNAO1-related developmental delay-seizures-movement disorder spectrum / Orphanet_592564

IMPC phenotypes (gene matching)

increased blood urea nitrogen level / IMPC
decreased eosinophil cell number / IMPC
decreased circulating iron level / IMPC
decreased fasting circulating glucose level / IMPC
preweaning lethality, complete penetrance / IMPC
increased circulating amylase level / IMPC
decreased circulating serum albumin level / IMPC
impaired righting response / IMPC
increased circulating triglyceride level / IMPC
decreased respiratory quotient / IMPC
hyperactivity / IMPC
decreased red blood cell distribution width / IMPC
increased circulating creatinine level / IMPC
abnormal bone structure / IMPC
decreased erythrocyte cell number / IMPC
increased mean corpuscular hemoglobin / IMPC
decreased bone mineral content / IMPC
decreased anxiety-related response / IMPC

MGI phenotypes (gene matching)

tremors / MGI
sporadic seizures / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal social investigation / MGI
abnormal locomotor behavior / MGI
unidirectional circling / MGI
hyperactivity / MGI
impaired coordination / MGI
abnormal kindling response / MGI
abnormal reproductive system physiology / MGI
infertility / MGI
increased circulating insulin level / MGI
premature death / MGI
increased insulin secretion / MGI
abnormal channel response / MGI
abnormal nervous system physiology / MGI
abnormal hormone level / MGI
abnormal body size / MGI
decreased thermal nociceptive threshold / MGI
abnormal cone electrophysiology / MGI
abnormal myocardial fiber physiology / MGI
abnormal behavior / MGI
improved glucose tolerance / MGI
homeostasis/metabolism phenotype / MGI
behavior/neurological phenotype / MGI
vision/eye phenotype / MGI
hyperalgesia / MGI
abnormal eye electrophysiology / MGI
decreased circulating glucose level / MGI
abnormal spike wave discharge / MGI
mortality/aging / MGI
abnormal survival / MGI
lethality, incomplete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
preweaning lethality, incomplete penetrance / MGI
lethality, complete penetrance / 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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