C57BL/6N-Duoxa2^{tm1b(KOMP)Wtsi}/WtsiCnrm

Status	Available to order
EMMA ID	EM:13391
International strain name	C57BL/6N-Duoxa2^{tm1b(KOMP)Wtsi}/WtsiCnrm
Alternative name	EPD0899_5_A06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Duoxa2^{tm1b(KOMP)Wtsi}
Gene/Transgene symbol	Duoxa2
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 KOMP ES clone EPD0899_5_A06. 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 using a cell permeable HTN-Cre as described in doi:10.1007/s11248-013-9764-x. Click here for more information on KOMP final vectors.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Familial thyroid dyshormonogenesis / Orphanet_95716

IMPC phenotypes (allele matching)

decreased bone mineral density / IMPC
abnormal vertebrae morphology / IMPC
increased circulating LDL cholesterol level / IMPC
increased circulating calcium level / IMPC
decreased hematocrit / IMPC
increased neutrophil cell number / IMPC
decreased leukocyte cell number / IMPC
abnormal head morphology / IMPC
abnormal cranium morphology / IMPC
abnormal snout morphology / IMPC
abnormal radius morphology / IMPC
abnormal tibia morphology / IMPC
abnormal femur morphology / IMPC
decreased body length / IMPC
abnormal iris morphology / IMPC
abnormal eyelid morphology / IMPC
increased circulating HDL cholesterol level / IMPC
abnormal hair growth / IMPC
decreased heart weight / IMPC
decreased hemoglobin content / IMPC
decreased erythrocyte cell number / IMPC
abnormal joint morphology / IMPC
increased circulating serum albumin level / IMPC
abnormal bone structure / IMPC
increased lean body mass / IMPC
decreased lean body mass / IMPC
abnormal vertebral arch morphology / IMPC
abnormal auditory brainstem response / IMPC
increased T cell number / IMPC
decreased B cell number / IMPC
abnormal ulna morphology / IMPC
increased circulating cholesterol level / IMPC
abnormal zygomatic bone morphology / IMPC
improved glucose tolerance / IMPC
abnormal humerus morphology / IMPC
abnormal clavicle morphology / IMPC
decreased circulating thyroxine level / IMPC
increased circulating creatinine level / IMPC
decreased circulating glucose level / IMPC
increased mean corpuscular hemoglobin / IMPC
increased blood urea nitrogen level / IMPC
increased circulating total protein level / IMPC
increased circulating sodium level / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
absent pinna reflex / IMPC
decreased NK cell number / IMPC
increased CD4-positive, alpha-beta T cell number / IMPC
increased CD8-positive, alpha-beta T cell number / IMPC
decreased CD8-positive, alpha-beta T cell number / IMPC
decreased follicular B cell number / IMPC
decreased B-2 B cell number / IMPC
decreased mature B cell number / IMPC
decreased immature B cell number / IMPC
increased plasmacytoid dendritic cell number / IMPC
decreased circulating amylase level / IMPC
increased circulating iron level / IMPC
decreased mean platelet volume / IMPC
decreased transitional stage T1 B cell number / IMPC
increased total body fat amount / IMPC
decreased total body fat amount / IMPC
decreased grip strength / IMPC
decreased red blood cell distribution width / IMPC
increased circulating fructosamine level / IMPC
abnormal thoracic cage shape / IMPC
decreased bone mineral content / IMPC
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased effector memory CD8-positive, alpha-beta T cell number / IMPC
increased alpha-beta T cell number / IMPC
decreased KLRG1-positive NK cell number / IMPC
decreased Ly6C low monocyte number / IMPC
increased fasting circulating glucose level / IMPC
decreased memory-marker gamma-delta T cell number / IMPC
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased CD8-positive, naive alpha-beta T cell number / IMPC
decreased CD11b-high dendritic cell number / IMPC
increased T-helper cell number / IMPC
decreased effector memory T-helper cell number / IMPC

IMPC phenotypes (gene matching)

increased circulating calcium level / IMPC
decreased bone mineral density / IMPC
abnormal auditory brainstem response / IMPC
abnormal radius morphology / IMPC
increased circulating cholesterol level / IMPC
decreased bone mineral content / IMPC
decreased KLRG1-positive NK cell number / IMPC
decreased grip strength / IMPC
decreased effector memory T-helper cell number / IMPC
abnormal tibia morphology / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
decreased leukocyte cell number / IMPC
increased circulating creatinine level / IMPC
abnormal clavicle morphology / IMPC
abnormal hair growth / IMPC
abnormal joint morphology / IMPC
increased circulating fructosamine level / IMPC
increased CD4-positive, alpha-beta T cell number / IMPC
abnormal thoracic cage shape / IMPC
decreased Ly6C low monocyte number / IMPC
increased effector memory CD8-positive, alpha-beta T cell number / IMPC
increased lean body mass / IMPC
decreased lean body mass / IMPC
abnormal vertebral arch morphology / IMPC
decreased mature B cell number / IMPC
decreased red blood cell distribution width / IMPC
increased T cell number / IMPC
decreased immature B cell number / IMPC
decreased memory-marker gamma-delta T cell number / IMPC
increased mean corpuscular hemoglobin / IMPC
decreased hematocrit / IMPC
abnormal femur morphology / IMPC
increased circulating iron level / IMPC
increased alpha-beta T cell number / IMPC
decreased circulating glucose level / IMPC
decreased erythrocyte cell number / IMPC
abnormal vertebrae morphology / IMPC
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased circulating sodium level / IMPC
increased circulating LDL cholesterol level / IMPC
abnormal humerus morphology / IMPC
increased total body fat amount / IMPC
decreased B cell number / IMPC
increased circulating total protein level / IMPC
decreased B-2 B cell number / IMPC
decreased CD8-positive, alpha-beta T cell number / IMPC
increased neutrophil cell number / IMPC
absent pinna reflex / IMPC
increased circulating serum albumin level / IMPC
increased blood urea nitrogen level / IMPC
decreased transitional stage T1 B cell number / IMPC
decreased heart weight / IMPC
abnormal zygomatic bone morphology / IMPC
abnormal ulna morphology / IMPC
increased CD8-positive, naive alpha-beta T cell number / IMPC
decreased circulating thyroxine level / IMPC
increased plasmacytoid dendritic cell number / IMPC
increased circulating HDL cholesterol level / IMPC
abnormal snout morphology / IMPC
abnormal cranium morphology / IMPC
decreased body length / IMPC
decreased hemoglobin content / IMPC
increased CD8-positive, alpha-beta T cell number / IMPC
abnormal bone structure / IMPC
decreased follicular B cell number / IMPC
decreased circulating amylase level / IMPC
increased T-helper cell number / IMPC
abnormal head morphology / IMPC
decreased total body fat amount / IMPC
improved glucose tolerance / IMPC
abnormal eyelid morphology / IMPC
increased fasting circulating glucose level / IMPC
abnormal iris morphology / IMPC
decreased NK cell number / IMPC
decreased CD11b-high dendritic cell number / IMPC
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
decreased mean platelet volume / IMPC

MGI phenotypes (gene matching)

no abnormal phenotype detected / 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^*

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-Duoxa2tm1b(KOMP)Wtsi/WtsiCnrm