- 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
C57BL/6NTac-Cdh23ahl+em3H/H
Status | Available to order |
EMMA ID | EM:10890 |
International strain name | C57BL/6NTac-Cdh23ahl+em3H/H |
Alternative name | C57BL/6NTac-Cdh23 |
Strain type | Endonuclease-mediated |
Allele/Transgene symbol | Cdh23ahl+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 |
|
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 |
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)
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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