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 |
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| 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
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