C57BL/6N-A^tm1Brd Slc5a7^{tm1a(KOMP)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:08741
International strain name	C57BL/6N-A^tm1Brd Slc5a7^{tm1a(KOMP)Wtsi}/WtsiH
Alternative name	EPD0742_5_H10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Slc5a7^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Slc5a7
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 EPD0742_5_H10. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Presynaptic congenital myasthenic syndromes / Orphanet_98914
Distal hereditary motor neuropathy type 7 / Orphanet_139589

IMPC phenotypes (allele matching)

abnormal hair growth / IMPC
decreased total body fat amount / IMPC
increased grip strength / IMPC
decreased circulating fructosamine level / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

abnormal hair growth / IMPC
increased grip strength / IMPC
preweaning lethality, complete penetrance / IMPC
decreased circulating fructosamine level / IMPC
decreased total body fat amount / IMPC

MGI phenotypes (allele matching)

abnormal small intestine morphology / MGI
abnormal eye morphology / MGI
dilated pancreatic duct / MGI
muscular ventricular septal defect / MGI
bicuspid aortic valve / MGI
herniated liver / MGI
blood in lymph vessels / MGI
abnormal coronary sinus connection / MGI
abnormal vertebral artery topology / MGI

MGI phenotypes (gene matching)

abnormal small intestine morphology / MGI
abnormal motor neuron innervation pattern / MGI
abnormal neuromuscular synapse morphology / MGI
cyanosis / MGI
respiratory failure / MGI
abnormal eye morphology / MGI
no abnormal phenotype detected / MGI
no phenotypic analysis / MGI
abnormal synaptic acetylcholine release / MGI
hyporesponsive to tactile stimuli / MGI
dilated pancreatic duct / MGI
increased sensitivity to xenobiotic induced morbidity/mortality / MGI
muscular ventricular septal defect / MGI
bicuspid aortic valve / MGI
herniated liver / MGI
neonatal lethality, incomplete penetrance / MGI
blood in lymph vessels / MGI
abnormal coronary sinus connection / MGI
abnormal vertebral artery topology / MGI
retrolental blood / MGI

Information on how we integrate external resources can be found here

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
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)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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