C57BL/6NTac-Cdh23^ahl+em3H/H

Status	Available to order
EMMA ID	EM:10890
Citation information	RRID:IMSR_EM:10890 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6NTac-Cdh23^ahl+em3H/H
Alternative name	C57BL/6NTac-Cdh23/H
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Cdh23^ahl+em3H
Gene/Transgene symbol	Cdh23

Information from provider

Provider	Mike Bowl
Provider affiliation	Mammalian Genetics Unit, MRC Harwell
Genetic information	The 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 information	Homozygous: Non agouti. Age related hearing loss repaired. Heterozygous: Non agouti. Age related hearing loss repaired.
Breeding history	Rederived 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 fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	homozygous C57BL/6NTac males
Breeding at archiving centre	This mutation was bred on a coisogenic C57BL/6NTac background

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 (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

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Order

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.

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Practical information

Genotyping protocol

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C57BL/6NTac-Cdh23ahl+em3H/H