B6NCrl;B6N-A^tm1Brd Cstb^{tm1a(EUCOMM)Wtsi}/Orl

Status	Available to order
EMMA ID	EM:09566
International strain name	B6NCrl;B6N-A^tm1Brd Cstb^{tm1a(EUCOMM)Wtsi}/Orl
Alternative name	EPD0533_5_G04
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Cstb^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Cstb
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	Institut de Transgenose, INTRAGENE
Provider affiliation	TAAM-CDTA UPS44, Institut de Transgenose, INTRAGENE
Genetic information	This mouse line originates from EUCOMM ES clone EPD0533_5_G04. 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	Institut de Transgenose, INTRAGENE, Orléans, France
Animals used for archiving	heterozygous C57BL/6NCrl

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Unverricht-Lundborg disease / Orphanet_308
Autosomal recessive hypohidrotic ectodermal dysplasia / Orphanet_248

IMPC phenotypes (gene matching)

decreased body length / IMPC
increased monocyte cell number / IMPC
abnormal auditory brainstem response / IMPC
decreased total retina thickness / IMPC
abnormal eye anterior chamber depth / IMPC
abnormal retina outer nuclear layer morphology / IMPC
decreased lymphocyte cell number / IMPC
hyperactivity / IMPC
increased vertical activity / IMPC
short tibia / IMPC
increased circulating triglyceride level / IMPC
decreased circulating creatinine level / IMPC

MGI phenotypes (gene matching)

myoclonus / MGI
abnormal cerebellum morphology / MGI
cerebellum hypoplasia / MGI
abnormal cornea morphology / MGI
increased incidence of corneal inflammation / MGI
corneal opacity / MGI
corneal scarring / MGI
ataxia / MGI
impaired coordination / MGI
abnormal gait / MGI
abnormal apoptosis / MGI
seizures / MGI
nervous system phenotype / MGI
abnormal nervous system physiology / MGI
abnormal cerebellar granule cell morphology / MGI
abnormal brain wave pattern / MGI
abnormal eye physiology / MGI
growth/size/body region phenotype / MGI
behavior/neurological phenotype / MGI
uveitis / MGI
facial muscle spasm / 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
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)
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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INFRAFRONTIER^® and European Mouse Mutant Archive - EMMA^® are registered trademarks at the European Union Intellectual Property Office (EUIPO).

B6NCrl;B6N-Atm1Brd Cstbtm1a(EUCOMM)Wtsi/Orl