C57BL/6N-Atm1Brd Cdh23tm2a(EUCOMM)Wtsi/WtsiCnrm

Status

Available to order

EMMA IDEM:10188
International strain nameC57BL/6N-Atm1Brd Cdh23tm2a(EUCOMM)Wtsi/WtsiCnrm
Alternative nameMEPD1008_2_A03
Strain typeTargeted Mutant Strains
Allele/Transgene symbolCdh23tm2a(EUCOMM)Wtsi
Gene/Transgene symbolCdh23
DisclaimerPlease note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
  1. 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.
  2. 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.
  3. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA.
  4. 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 affiliationWellcome Trust Sanger Institute
Genetic informationThis mouse line originates from EUCOMM ES clone MEPD1008_2_A03. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic informationPotential phenotyping data in the IMPC portal
ReferencesNone available

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • decreased circulating calcium level / IMPC
  • preweaning lethality, incomplete penetrance / IMPC
  • absent pinna reflex / IMPC
  • decreased body length / IMPC
  • decreased circulating glucose level / IMPC
  • increased mean corpuscular hemoglobin / IMPC
  • trunk curl / IMPC
  • increased lean body mass / IMPC
  • decreased total body fat amount / IMPC
  • increased circulating sodium level / IMPC
  • abnormal gait / IMPC
  • impaired righting response / IMPC
  • decreased fasting circulating glucose level / IMPC
  • increased circulating chloride level / IMPC
  • stereotypic behavior / IMPC
  • decreased leukocyte cell number / IMPC
  • increased bone mineral content / IMPC
MGI phenotypes (gene matching)
  • abnormal ear position / MGI
  • abnormal inner ear morphology / MGI
  • abnormal cochlea morphology / MGI
  • abnormal organ of Corti morphology / MGI
  • organ of Corti degeneration / MGI
  • abnormal stria vascularis morphology / MGI
  • tremors / MGI
  • abnormal maternal nurturing / MGI
  • abnormal stationary movement / MGI
  • abnormal locomotor behavior / MGI
  • ataxia / MGI
  • circling / MGI
  • bidirectional circling / MGI
  • hyperactivity / MGI
  • abnormal gait / MGI
  • head bobbing / MGI
  • decreased grooming behavior / MGI
  • abnormal startle reflex / MGI
  • decreased startle reflex / MGI
  • impaired swimming / MGI
  • decreased litter size / MGI
  • abnormal reflex / MGI
  • abnormal hearing physiology / MGI
  • deafness / MGI
  • abnormal motor capabilities/coordination/movement / MGI
  • abnormal ear morphology / MGI
  • abnormal cochlear hair cell morphology / MGI
  • head shaking / MGI
  • decreased vertical activity / MGI
  • abnormal cochlear ganglion morphology / MGI
  • cochlear ganglion degeneration / MGI
  • abnormal otolith morphology / MGI
  • abnormal response to novelty / MGI
  • abnormal cochlear sensory epithelium morphology / MGI
  • cochlear ganglion hypoplasia / MGI
  • abnormal defecation / MGI
  • abnormal ear physiology / MGI
  • vestibular saccular degeneration / MGI
  • vestibular saccular macula degeneration / MGI
  • cochlear hair cell degeneration / MGI
  • stria vascularis degeneration / MGI
  • decreased cochlear inner hair cell number / MGI
  • cochlear inner hair cell degeneration / MGI
  • abnormal cochlear outer hair cell morphology / MGI
  • decreased cochlear outer hair cell number / MGI
  • cochlear outer hair cell degeneration / MGI
  • decreased cochlear hair cell number / MGI
  • abnormal cochlear nerve compound action potential / MGI
  • abnormal hair cell mechanoelectric transduction / MGI
  • abnormal cochlear hair cell physiology / MGI
  • abnormal cochlear outer hair cell physiology / MGI
  • abnormal orientation of outer hair cell stereociliary bundles / MGI
  • abnormal orientation of inner hair cell stereociliary bundles / MGI
  • abnormal vestibular hair cell stereociliary bundle morphology / MGI
  • abnormal cochlear hair cell stereociliary bundle morphology / MGI
  • abnormal orientation of cochlear hair cell stereociliary bundles / MGI
  • decreased cochlear hair cell stereocilia number / MGI
  • abnormal outer hair cell stereociliary bundle morphology / MGI
  • decreased outer hair cell stereocilia number / MGI
  • absent outer hair cell stereocilia / 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
  • increased susceptibility to noise-induced hearing loss / MGI
  • abnormal distortion product otoacoustic emission / MGI
  • absent distortion product otoacoustic emissions / MGI
  • abnormal auditory brainstem response / MGI
  • abnormal vestibular system physiology / MGI
  • increased susceptibility to age-related hearing loss / MGI
  • absent linear vestibular evoked potential / MGI
  • head tilt / MGI
  • head tossing / MGI
  • novel environmental response-related retropulsion / MGI
  • homeostasis/metabolism phenotype / MGI
  • hearing/vestibular/ear phenotype / MGI
  • behavior/neurological phenotype / MGI
  • vision/eye phenotype / MGI
  • abnormal eye electrophysiology / MGI
  • impaired hearing / MGI
  • absent pinna reflex / MGI
  • absent startle reflex / MGI
  • abnormal inner hair cell kinocilium morphology / MGI
  • abnormal outer hair cell kinocilium morphology / MGI
  • increased or absent threshold for auditory brainstem response / MGI
  • decreased a wave implicit time / MGI
  • decreased b wave implicit time / MGI

Information on how we integrate external resources can be found here

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

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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