IMPC phenotypes (gene matching)
- increased circulating phosphate level / IMPC
C57BL/6J-Diaph2em2Kcl
| Status | Available to order |
| EMMA ID | EM:15747 |
| Citation information | RRID:IMSR_EM:15747 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-Diaph2em2Kcl |
| Alternative name | C57BL/6J-Diaph2 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Unknown at present, Diaph2 |
| Gene/Transgene symbol | Unknown at present, Diaph2 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King's College London |
| Genetic information | A 19-bp deletion (NM_172493.2:c.855_873del) resulting in a frameshift and hence creating a premature stop codon in exon 9. A 877A>G missense substitution was also present. |
| Phenotypic information | Homozygous:Hemizygous males and homozygous females were tested for auditory function by auditory brainstem responses, but were found to show normal thresholds.Heterozygous:Hemizygotes and heterozygous females show normal hearing |
| Breeding history | The colony was maintained on a C57BL/6J genetic background and the line was cryopreserved after two generations. |
| 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 |
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