C57BL/6N-A^tm1Brd Actn4^{tm1a(EUCOMM)Wtsi}/WtsiBiat

Status	Available to order
EMMA ID	EM:05964
International strain name	C57BL/6N-A^tm1Brd Actn4^{tm1a(EUCOMM)Wtsi}/WtsiBiat
Alternative name	EPD0525_2_B12
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Actn4^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Actn4
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 EPD0525_2_B12. 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	University of Veterinary Medicine, Vienna, Austria

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Genetic steroid-resistant nephrotic syndrome / Orphanet_656

IMPC phenotypes (allele matching)

abnormal retina morphology / IMPC
increased heart weight / IMPC
preweaning lethality, incomplete penetrance / IMPC
hyperplasia / IMPC
hypertrophic tissue / IMPC

IMPC phenotypes (gene matching)

hyperplasia / IMPC
preweaning lethality, incomplete penetrance / IMPC
increased heart weight / IMPC
abnormal retina morphology / IMPC
hypertrophic tissue / IMPC

MGI phenotypes (allele matching)

overriding aortic valve / MGI
double outlet right ventricle / MGI
abnormal atrioventricular cushion morphology / MGI
short snout / MGI
enlarged liver sinusoidal spaces / MGI
abnormal forebrain morphology / MGI
absent superior cervical ganglion / MGI
small superior cervical ganglion / MGI
abnormal vein morphology / MGI
abnormal lens epithelium morphology / MGI
biliary cyst / MGI
abnormal eye muscle morphology / MGI
abnormal Mullerian duct morphology / MGI
abnormal optic cup morphology / MGI
absent stapedial artery / MGI
hemopericardium / MGI
abnormal inferior vena cava morphology / MGI
arteriovenous malformation / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
abnormal hypoglossal canal morphology / MGI
small hypoglossal canal / MGI
absent hypoglossal canal / MGI
thin hypoglossal nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
subcutaneous edema / MGI
trigeminal neuroma / MGI
absent ductus venosus valve / MGI
abnormal ductus venosus valve morphology / MGI
abnormal ductus venosus valve topology / MGI
abnormal infrahyoid muscle connection / MGI
multiple persisting craniopharyngeal ducts / MGI
blood in lymph vessels / MGI
abnormal coronary sinus connection / MGI
persistent dorsal ophthalmic artery / MGI
embryo tumor / MGI
heterochrony / MGI
abnormal intestine placement / MGI

MGI phenotypes (gene matching)

overriding aortic valve / MGI
double outlet right ventricle / MGI
abnormal atrioventricular cushion morphology / MGI
short snout / MGI
cortical renal glomerulopathies / MGI
enlarged liver sinusoidal spaces / MGI
abnormal forebrain morphology / MGI
absent superior cervical ganglion / MGI
small superior cervical ganglion / MGI
weight loss / MGI
postnatal growth retardation / MGI
premature death / MGI
dilated renal tubules / MGI
abnormal vein morphology / MGI
albuminuria / MGI
increased urine microalbumin level / MGI
increased urine protein level / MGI
small kidney / MGI
abnormal lens epithelium morphology / MGI
biliary cyst / MGI
kidney failure / MGI
abnormal eye muscle morphology / MGI
abnormal Mullerian duct morphology / MGI
abnormal optic cup morphology / MGI
absent stapedial artery / MGI
pale kidney / MGI
hemopericardium / MGI
glomerulosclerosis / MGI
abnormal blood urea nitrogen level / MGI
abnormal renal glomerulus morphology / MGI
abnormal podocyte morphology / MGI
abnormal inferior vena cava morphology / MGI
arteriovenous malformation / MGI
podocyte foot process effacement / MGI
perimembraneous ventricular septal defect / MGI
muscular ventricular septal defect / MGI
perinatal lethality, incomplete penetrance / MGI
abnormal glomerular capillary morphology / MGI
abnormal renal glomerulus basement membrane morphology / MGI
renal cast / MGI
decreased podocyte number / MGI
increased lymphocyte chemotaxis / MGI
abnormal podocyte adhesion / MGI
detached podocyte / MGI
abnormal hypoglossal canal morphology / MGI
small hypoglossal canal / MGI
absent hypoglossal canal / MGI
thin hypoglossal nerve / MGI
absent hypoglossal nerve / MGI
abnormal hypoglossal nerve topology / MGI
subcutaneous edema / MGI
trigeminal neuroma / MGI
absent ductus venosus valve / MGI
abnormal ductus venosus valve morphology / MGI
abnormal ductus venosus valve topology / MGI
abnormal infrahyoid muscle connection / MGI
multiple persisting craniopharyngeal ducts / MGI
blood in lymph vessels / MGI
abnormal coronary sinus connection / MGI
persistent dorsal ophthalmic artery / MGI
embryo tumor / MGI
heterochrony / MGI
abnormal intestine placement / 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

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

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C57BL/6N-Atm1Brd Actn4tm1a(EUCOMM)Wtsi/WtsiBiat