C57BL/6NTac-Ush1c^{tm1a(KOMP)Wtsi}/WtsiOulu

Status	Available to order
EMMA ID	EM:14364
International strain name	C57BL/6NTac-Ush1c^{tm1a(KOMP)Wtsi}/WtsiOulu
Alternative name	EPD0132_5_A03
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Ush1c^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Ush1c
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 EPD0132_5_A03. 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	Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation.;Corns Laura F, Johnson Stuart L, Roberts Terri, Ranatunga Kishani M, Hendry Aenea, Ceriani Federico, Safieddine Saaid, Steel Karen P, Forge Andy, Petit Christine, Furness David N, Kros Corné J, Marcotti Walter, ;2018;Nature communications;9;4015; 30275467

Information from EMMA

Archiving centre	University of Oulu, Oulu, Finland

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Usher syndrome type 1 / Orphanet_231169
Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636

IMPC phenotypes (allele matching)

stereotypic behavior / IMPC
trunk curl / IMPC
limb grasping / IMPC
impaired righting response / IMPC
increased circulating chloride level / IMPC
increased lean body mass / IMPC
improved glucose tolerance / IMPC
decreased circulating glucose level / IMPC
increased circulating sodium level / IMPC
absent pinna reflex / IMPC
decreased circulating amylase level / IMPC
decreased total body fat amount / IMPC
decreased grip strength / IMPC
increased red blood cell distribution width / IMPC
increased bone mineral content / IMPC
increased food intake / IMPC

IMPC phenotypes (gene matching)

decreased grip strength / IMPC
limb grasping / IMPC
increased lean body mass / IMPC
increased bone mineral content / IMPC
absent pinna reflex / IMPC
increased circulating chloride level / IMPC
decreased circulating amylase level / IMPC
increased red blood cell distribution width / IMPC
increased food intake / IMPC
stereotypic behavior / IMPC
impaired righting response / IMPC
trunk curl / IMPC
increased circulating sodium level / IMPC
decreased total body fat amount / IMPC
improved glucose tolerance / IMPC
decreased circulating glucose level / IMPC

MGI phenotypes (gene matching)

organ of Corti degeneration / MGI
abnormal enterocyte morphology / MGI
abnormal intestinal epithelium morphology / MGI
abnormal colon morphology / MGI
abnormal small intestine morphology / MGI
retinal degeneration / MGI
circling / MGI
hyperactivity / MGI
head bobbing / MGI
impaired swimming / MGI
impaired balance / MGI
deafness / MGI
abnormal cochlear hair cell morphology / MGI
cochlear ganglion degeneration / MGI
vestibular hair cell degeneration / MGI
cochlear inner hair cell degeneration / MGI
abnormal cochlear outer hair cell morphology / MGI
cochlear outer hair cell degeneration / MGI
abnormal hair cell mechanoelectric transduction / MGI
abnormal orientation of outer hair cell stereociliary bundles / MGI
abnormal orientation of inner hair cell stereociliary bundles / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
abnormal orientation of cochlear hair cell stereociliary bundles / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
abnormal inner hair cell stereociliary bundle morphology / MGI
abnormal cochlear hair cell inter-stereocilial links morphology / MGI
abnormal cochlear hair bundle tip links morphology / MGI
head tossing / MGI
reproductive system phenotype / MGI
vision/eye phenotype / MGI
absent pinna reflex / MGI
decreased small intestinal microvillus size / MGI
increased or absent threshold for auditory brainstem response / MGI
abnormal electroretinogram waveform feature / MGI

Literature references

Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation.;Corns Laura F, Johnson Stuart L, Roberts Terri, Ranatunga Kishani M, Hendry Aenea, Ceriani Federico, Safieddine Saaid, Steel Karen P, Forge Andy, Petit Christine, Furness David N, Kros Corné J, Marcotti Walter, ;2018;Nature communications;9;4015; 30275467

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^*
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
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/6NTac-Ush1ctm1a(KOMP)Wtsi/WtsiOulu