IMPC phenotypes (gene matching)
- increased circulating phosphate level / IMPC
C57BL/6J-Diaph2em2Kcl
| Status | Available to order |
| EMMA ID | EM:15747 |
| 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 |
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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 |
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