IMPC phenotypes (gene matching)
- increased circulating phosphate level / IMPC
C57BL/6J-Diaph2em3Kcl
| Status | Available to order |
| EMMA ID | EM:15748 |
| 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 |
|
| 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