IMPC phenotypes (gene matching)
C57BL/6J-Ap2s1em3H/H
| Status | Available to order |
| EMMA ID | EM:15291 |
| Citation information | RRID:IMSR_EM:15291 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-Ap2s1em3H/H |
| Alternative name | C57BL/6J-Ap2s1 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Ap2s1em3H |
| Gene/Transgene symbol | Ap2s1 |
Information from provider
| Provider | Raj Thakker |
| Provider affiliation | Academic Endocrine Unit, University of Oxford |
| Genetic information | This mouse strain carries a CRISPR/Cas9 induced mutation creating a R15C change in exon ENSMUSE00000336284 of the Ap2s1 gene. |
| Phenotypic information | Homozygous:Homozygotes sub-viable, not surviving in Mendelian ratios at weaning. Homs that do survive seem to have higher incidence of teeth problems.Heterozygous:Not reported. |
| Breeding history | Coisogenic on C57BL/6J. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial hypocalciuric hypercalcemia type 3 / Orphanet_101050