C57BL/6NTac-Cdh23ahl+em3H/H

Status

Available to order

EMMA IDEM:10890
International strain nameC57BL/6NTac-Cdh23ahl+em3H/H
Alternative nameC57BL/6NTac-Cdh23/H
Strain typeEndonuclease-mediated
Allele/Transgene symbolCdh23ahl+em3H
Gene/Transgene symbolCdh23

Information from provider

ProviderMike Bowl
Provider affiliationMammalian Genetics Unit, MRC Harwell
Genetic informationThe C57BL/6NTac strain carries the age related hearing loss allele due to in frame exon skipping. Via Crispr technology, this allele has been repaired i.e. A to G substitution at position 60530947. 29 and 28 bases respectively upstream of this there is the silent change of AG to TC.
Phenotypic informationHomozygous:
Non agouti. Age related hearing loss repaired.

Heterozygous:
Non agouti. Age related hearing loss repaired.
Breeding historyRederived mice tm1a have been crossed with Flp mice (Gt(Rosa)26Sortm2(CAG-FlpO,-EYFP)ICS) to obtain the tm1c allele
References
  • Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.;Mianné Joffrey, Chessum Lauren, Kumar Saumya, Aguilar Carlos, Codner Gemma, Hutchison Marie, Parker Andrew, Mallon Ann-Marie, Wells Sara, Simon Michelle M, Teboul Lydia, Brown Steve D M, Bowl Michael R, ;2016;Genome medicine;8;16; 26876963
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archivinghomozygous C57BL/6NTac
Breeding at archiving centreThis mutation was bred on a coisogenic C57BL/6NTac background

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

Literature references

  • Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.;Mianné Joffrey, Chessum Lauren, Kumar Saumya, Aguilar Carlos, Codner Gemma, Hutchison Marie, Parker Andrew, Mallon Ann-Marie, Wells Sara, Simon Michelle M, Teboul Lydia, Brown Steve D M, Bowl Michael R, ;2016;Genome medicine;8;16; 26876963

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.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • 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), as well as a CRISPR surcharge.

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
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