C57BL/6NTac-Slc20a2^{tm1a(EUCOMM)Wtsi}/Ieg

Status	Available to order
EMMA ID	EM:05549
International strain name	C57BL/6NTac-Slc20a2^{tm1a(EUCOMM)Wtsi}/Ieg
Alternative name	EPD0243_1_C06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Slc20a2^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Slc20a2
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 EPD0243_1_C06. 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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C57BL/6NTacUSA, wild-type C57BL/6NTacUSA
Stage of embryos	2-cell

Disease and phenotype information

MGI allele-associated human disease models

basal ganglia calcification / DOID:0060230

IMPC phenotypes (allele matching)

decreased bone mineral density / IMPC
kyphosis / IMPC
decreased body length / IMPC
abnormal lens morphology / IMPC
cataract / IMPC
irregularly shaped pupil / IMPC
abnormal iris morphology / IMPC
increased circulating alkaline phosphatase level / IMPC
abnormal spine curvature / IMPC
abnormal auditory brainstem response / IMPC
eyelids fail to open / IMPC
narrow eye opening / IMPC
absent pinna reflex / IMPC
increased grip strength / IMPC
increased circulating magnesium level / IMPC
abnormal incisor color / IMPC
decreased bone mineral content / IMPC
developmental and structural abnormality / IMPC
mineralisation / IMPC
developmental dysplasia / IMPC

IMPC phenotypes (gene matching)

eyelids fail to open / IMPC
decreased total retina thickness / IMPC
cataract / IMPC
abnormal incisor color / IMPC
abnormal lens morphology / IMPC
decreased bone mineral density / IMPC
decreased bone mineral content / IMPC
impaired glucose tolerance / IMPC
abnormal vitreous body morphology / IMPC
increased circulating magnesium level / IMPC
developmental and structural abnormality / IMPC
increased total body fat amount / IMPC
developmental dysplasia / IMPC
decreased body length / IMPC
narrow eye opening / IMPC
preweaning lethality, incomplete penetrance / IMPC
abnormal vocalization / IMPC
abnormal spine curvature / IMPC
increased circulating alkaline phosphatase level / IMPC
abnormal retina vasculature morphology / IMPC
mineralisation / IMPC
irregularly shaped pupil / IMPC
increased grip strength / IMPC
kyphosis / IMPC
absent pinna reflex / IMPC
abnormal retina morphology / IMPC
abnormal auditory brainstem response / IMPC
abnormal iris morphology / IMPC
abnormal motor coordination/balance / IMPC

MGI phenotypes (allele matching)

abnormal mineral level / MGI
decreased circulating phosphate level / MGI
abnormal cerebral cortex morphology / MGI
abnormal thalamus morphology / MGI
abnormal basal ganglion morphology / MGI
microgliosis / MGI
calcified brain / MGI
abnormal atrioventricular cushion morphology / MGI
abnormal forebrain morphology / MGI
small superior cervical ganglion / MGI
ectopic cartilage / MGI
fusion of vertebral arches / MGI
abnormal vena cava morphology / MGI
arteriovenous malformation / MGI
abnormal liver vasculature morphology / MGI
anomalous pulmonary venous connection / MGI
abnormal hypoglossal nerve topology / MGI
retropleural edema / MGI
subcutaneous edema / MGI
multiple persisting craniopharyngeal ducts / MGI
embryo tumor / MGI
embryo cyst / MGI

MGI phenotypes (gene matching)

abnormal mineral level / MGI
decreased circulating phosphate level / MGI
abnormal atrioventricular cushion morphology / MGI
abnormal forebrain morphology / MGI
abnormal cerebral cortex morphology / MGI
abnormal thalamus morphology / MGI
small superior cervical ganglion / MGI
ectopic cartilage / MGI
fusion of vertebral arches / MGI
abnormal basal ganglion morphology / MGI
abnormal vena cava morphology / MGI
arteriovenous malformation / MGI
microgliosis / MGI
abnormal liver vasculature morphology / MGI
anomalous pulmonary venous connection / MGI
abnormal hypoglossal nerve topology / MGI
subcutaneous edema / MGI
multiple persisting craniopharyngeal ducts / MGI
embryo tumor / MGI
embryo cyst / MGI
hemangioma / MGI
calcified brain / 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 embryos. 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/6NTac-Slc20a2tm1a(EUCOMM)Wtsi/Ieg