IMPC phenotypes (gene matching)
- increased circulating phosphate level / IMPC
C57BL/6J-Diaph2em3Kcl
| Status | Available to order |
| EMMA ID | EM:15748 |
| Citation information | RRID:IMSR_EM:15748 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/6J-Diaph2em3Kcl |
| Alternative name | C57BL/6J-Diaph2 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Diaph2 |
| Gene/Transgene symbol | Diaph2 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King's College London |
| Genetic information | Isoleucine codon 293 (ATT), straddling exons 8 and 9, was changed to valine (GTT) (NM_172493.2: c.877A>G, NP_766081.1:p.I293V) using an sgRNA and ssODN template with CRISPR/Cas9 technology. The mutation mimics the human NM_006729.4:c.868A>G, NP_006720.1:p.I290V missense and potential splice site variant associated with nonsyndromic hearing loss. The introduction of three additional silent mutations created two novel restriction sites (NdeI & MmeI) for screening and genotyping purposes. |
| Phenotypic information | Homozygous:Mice were tested by Auditory Brainstem Response recording but no hearing impairment was detected.Heterozygous:No hearing impairment. |
| Breeding history | The colony was maintained on a C57BL/6J genetic background and the line was cryopreserved after one generation. |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Literature references
- In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear.;Chiereghin Chiara, Robusto Michela, Lewis Morag A, Caetano Susana, Massa Valentina, Castorina Pierangela, Ambrosetti Umberto, Steel Karen P, Duga Stefano, Asselta Rosanna, Soldà Giulia, ;2023;PloS one;18;e0273586; 36689403