C57BL/6N-Nxn^{tm1b(EUCOMM)Wtsi}/Ieg

Status	Available to order
EMMA ID	EM:08100
International strain name	C57BL/6N-Nxn^{tm1b(EUCOMM)Wtsi}/Ieg
Alternative name	EPD0045_1_B11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Nxn^{tm1b(EUCOMM)Wtsi}
Gene/Transgene symbol	Nxn
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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	This mouse line originates from EUCOMM ES clone EPD0045_1_B11. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele (Gt(ROSA)26Sor). Click here for more information on EUCOMM final vectors.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C57BL/6NTacUSA

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive Robinow syndrome / Orphanet_1507

IMPC phenotypes (allele matching)

cleft palate / IMPC
abnormal craniofacial morphology / IMPC
microcephaly / IMPC
abnormal cranium morphology / IMPC
abnormal snout morphology / IMPC
syndactyly / IMPC
abnormal mammary gland morphology / IMPC
abnormal eyelid morphology / IMPC
abnormal locomotor behavior / IMPC
decreased locomotor activity / IMPC
no spontaneous movement / IMPC
decreased exploration in new environment / IMPC
unresponsive to tactile stimuli / IMPC
increased circulating triglyceride level / IMPC
increased circulating HDL cholesterol level / IMPC
abnormal embryo size / IMPC
abnormal digit morphology / IMPC
short tibia / IMPC
small adrenal glands / IMPC
increased circulating alkaline phosphatase level / IMPC
abnormal facial morphology / IMPC
abnormal optic disk morphology / IMPC
facial cleft / IMPC
increased effector memory CD8-positive, alpha-beta T cell number / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal head shape / IMPC
abnormal head size / IMPC
abnormal freezing behavior / IMPC

IMPC phenotypes (gene matching)

abnormal embryo size / IMPC
cleft palate / IMPC
unresponsive to tactile stimuli / IMPC
abnormal facial morphology / IMPC
abnormal craniofacial morphology / IMPC
facial cleft / IMPC
increased circulating alkaline phosphatase level / IMPC
decreased cardiac muscle contractility / IMPC
increased grip strength / IMPC
abnormal head size / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
preweaning lethality, complete penetrance / IMPC
abnormal head shape / IMPC
small adrenal glands / IMPC
decreased locomotor activity / IMPC
abnormal freezing behavior / IMPC
decreased body length / IMPC
abnormal eyelid morphology / IMPC
abnormal digit morphology / IMPC
abnormal optic disk morphology / IMPC
abnormal locomotor behavior / IMPC
increased circulating bilirubin level / IMPC
microcephaly / IMPC
short tibia / IMPC
abnormal mammary gland morphology / IMPC
anophthalmia / IMPC
abnormal retina blood vessel morphology / IMPC
irregularly shaped pupil / IMPC
syndactyly / IMPC
abnormal cranium morphology / IMPC
preweaning lethality, incomplete penetrance / IMPC
increased effector memory CD8-positive, alpha-beta T cell number / IMPC
decreased exploration in new environment / IMPC
abnormal behavior / IMPC
no spontaneous movement / IMPC
increased fasting circulating glucose level / IMPC
abnormal snout morphology / IMPC
increased circulating HDL cholesterol level / IMPC
increased circulating triglyceride level / IMPC

MGI phenotypes (allele matching)

cleft palate / MGI
double outlet right ventricle / MGI
enlarged liver sinusoidal spaces / MGI
abnormal Mullerian duct morphology / MGI
absent stapedial artery / MGI
perimembraneous ventricular septal defect / MGI
herniated liver / MGI
decreased intestine length / MGI
abnormal vitelline vein topology / MGI

MGI phenotypes (gene matching)

cleft palate / MGI
abnormal sternum morphology / MGI
double outlet right ventricle / MGI
enlarged liver sinusoidal spaces / MGI
persistent truncus arteriosis / MGI
abnormal Mullerian duct morphology / MGI
decreased fetal size / MGI
small frontal bone / MGI
absent stapedial artery / MGI
split xiphoid process / MGI
increased osteoblast cell number / MGI
abnormal cell physiology / MGI
ventricular septal defect / MGI
atrioventricular septal defect / MGI
perimembraneous ventricular septal defect / MGI
herniated liver / MGI
perinatal lethality, complete penetrance / MGI
decreased intestine length / MGI
abnormal vitelline vein topology / 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^*

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-Nxntm1b(EUCOMM)Wtsi/Ieg