C57BL/6N-A^tm1Brd Cog6^{tm1a(EUCOMM)Wtsi}/WtsiFlmg

Status	Available to order
EMMA ID	EM:10819
International strain name	C57BL/6N-A^tm1Brd Cog6^{tm1a(EUCOMM)Wtsi}/WtsiFlmg
Alternative name	EPD0609_4_H05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Cog6^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Cog6
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 EPD0609_4_H05. 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	B.S.R.C. Alexander Fleming, Vari, Greece

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

COG6-CGD / Orphanet_464443
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome / Orphanet_363523

IMPC phenotypes (allele matching)

decreased hematocrit / IMPC
increased leukocyte cell number / IMPC
increased monocyte cell number / IMPC
increased granulocyte number / IMPC
abnormal cornea morphology / IMPC
abnormal coat/hair pigmentation / IMPC
increased mean platelet volume / IMPC
decreased hemoglobin content / IMPC
decreased erythrocyte cell number / IMPC
increased circulating alkaline phosphatase level / IMPC
vertebral transformation / IMPC
abnormal bone structure / IMPC
increased anti-nuclear antigen antibody level / IMPC
increased eosinophil cell number / IMPC
decreased T cell number / IMPC
increased circulating aspartate transaminase level / IMPC
increased circulating bilirubin level / IMPC
decreased mean corpuscular hemoglobin / IMPC
increased circulating total protein level / IMPC
decreased mean corpuscular hemoglobin concentration / IMPC
decreased NK T cell number / IMPC
decreased NK cell number / IMPC
increased CD4-positive, alpha-beta T cell number / IMPC
decreased CD8-positive, alpha-beta T cell number / IMPC
increased plasma cell number / IMPC
increased follicular B cell number / IMPC
decreased marginal zone B cell number / IMPC
increased B-2 B cell number / IMPC
increased gamma-delta T cell number / IMPC
increased circulating amylase level / IMPC
decreased transitional stage T2 B cell number / IMPC
increased red blood cell distribution width / IMPC
decreased bone mineral content / IMPC
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased CD4-positive, alpha-beta memory T cell number / IMPC
decreased effector memory CD8-positive, alpha-beta T cell number / IMPC
decreased alpha-beta T cell number / IMPC
increased KLRG1-positive NK cell number / IMPC
increased Ly6C high monocyte number / IMPC
increased KLRG1+ CD8 alpha-beta T cell number / IMPC
increased KLRG1+ CD4 alpha-beta T cell number / IMPC
decreased memory-marker gamma-delta T cell number / IMPC
increased memory-marker gamma-delta T cell number / IMPC
increased CD5-positive gamma-delta T cell number / IMPC
decreased memory-marker NK cell number / IMPC
increased memory-marker NK cell number / IMPC
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
decreased CD8-positive, naive alpha-beta T cell number / IMPC
increased CD4-negative NK T cell number / IMPC
decreased memory-marker CD4-negative NK T cell number / IMPC
decreased CD4-positive NK T cell number / IMPC
decreased memory-marker CD4-positive NK T cell number / IMPC
decreased Ly6C-positive immature NK cell number / IMPC
decreased Ly6C-positive mature NK cell number / IMPC
decreased T-helper cell number / IMPC
increased effector memory T-helper cell number / IMPC
increased KLRG1-positive T-helper cell number / IMPC

IMPC phenotypes (gene matching)

decreased alpha-beta T cell number / IMPC
decreased NK T cell number / IMPC
increased memory-marker gamma-delta T cell number / IMPC
increased CD4-positive, alpha-beta memory T cell number / IMPC
decreased memory-marker CD4-positive NK T cell number / IMPC
decreased CD8-positive, alpha-beta T cell number / IMPC
decreased T cell number / IMPC
increased B-2 B cell number / IMPC
increased anti-nuclear antigen antibody level / IMPC
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
decreased bone mineral content / IMPC
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased KLRG1-positive T-helper cell number / IMPC
increased gamma-delta T cell number / IMPC
decreased NK cell number / IMPC
increased CD5-positive gamma-delta T cell number / IMPC
decreased memory-marker CD4-negative NK T cell number / IMPC
increased circulating aspartate transaminase level / IMPC
increased KLRG1+ CD8 alpha-beta T cell number / IMPC
decreased effector memory CD8-positive, alpha-beta T cell number / IMPC
increased Ly6C high monocyte number / IMPC
decreased memory-marker NK cell number / IMPC
increased KLRG1-positive NK cell number / IMPC
increased leukocyte cell number / IMPC
decreased mean corpuscular hemoglobin concentration / IMPC
abnormal coat/hair pigmentation / IMPC
increased monocyte cell number / IMPC
decreased erythrocyte cell number / IMPC
decreased CD8-positive, naive alpha-beta T cell number / IMPC
increased follicular B cell number / IMPC
abnormal cornea morphology / IMPC
decreased hematocrit / IMPC
increased circulating alkaline phosphatase level / IMPC
increased granulocyte number / IMPC
increased plasma cell number / IMPC
decreased Ly6C-positive immature NK cell number / IMPC
increased effector memory T-helper cell number / IMPC
increased CD4-positive, alpha-beta T cell number / IMPC
increased KLRG1+ CD4 alpha-beta T cell number / IMPC
increased CD4-negative NK T cell number / IMPC
decreased T-helper cell number / IMPC
abnormal bone structure / IMPC
increased red blood cell distribution width / IMPC
decreased Ly6C-positive mature NK cell number / IMPC
decreased transitional stage T2 B cell number / IMPC
increased eosinophil cell number / IMPC
increased circulating amylase level / IMPC
decreased hemoglobin content / IMPC
decreased CD4-positive NK T cell number / IMPC
increased circulating total protein level / IMPC
decreased mean corpuscular hemoglobin / IMPC
decreased memory-marker gamma-delta T cell number / IMPC
increased mean platelet volume / IMPC
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
vertebral transformation / IMPC
decreased marginal zone B cell number / IMPC
increased memory-marker NK cell number / IMPC
increased circulating bilirubin level / IMPC

MGI phenotypes (allele matching)

intracerebral hemorrhage / MGI
fusion of vertebral arches / MGI
abnormal inferior vena cava morphology / MGI
abnormal liver vasculature morphology / MGI
muscular ventricular septal defect / MGI
abnormal inferior vena cava valve morphology / MGI
dual inferior vena cava / MGI
thin hypoglossal nerve / MGI
abnormal vitelline vein connection / MGI
abnormal ductus venosus valve morphology / MGI
abnormal coronary sinus connection / MGI
abnormal vertebral artery topology / MGI

MGI phenotypes (gene matching)

intracerebral hemorrhage / MGI
no abnormal phenotype detected / MGI
fusion of vertebral arches / MGI
abnormal inferior vena cava morphology / MGI
abnormal liver vasculature morphology / MGI
muscular ventricular septal defect / MGI
abnormal inferior vena cava valve morphology / MGI
dual inferior vena cava / MGI
thin hypoglossal nerve / MGI
abnormal vitelline vein connection / MGI
abnormal ductus venosus valve morphology / MGI
abnormal coronary sinus connection / MGI
abnormal vertebral artery 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^*
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 Cog6tm1a(EUCOMM)Wtsi/WtsiFlmg