IMPC phenotypes (gene matching)
C57BL/6J-Ap2s1em1H/H
| Status | Available to order |
| EMMA ID | EM:15292 |
| Citation information | RRID:IMSR_EM:15292 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-Ap2s1em1H/H |
| Alternative name | C57BL/6J-Ap2s1em1H/H (AP2S1-R15L-EM1-B6) |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Ap2s1em1H |
| 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 point mutation generated by CRISPR/Cas9 gene editing which induced a R15L change in exon ENSMUSE00000336284 of the Ap2s1 gene. |
| Phenotypic information | Homozygous:Homozygotes sub-viable, homs are born in Mendelian ratios but most of them die within 2 days of birth. Only a small percentage of homs survive to weaning and beyond. Homozygotes that do survive seem to have increased incidence or craniofacial abnormalities, leading to overgrown teeth and hydrocephalus.Heterozygous:Not reported |
| Breeding history | Coisogenic on a C57BL/6J background |
| References |
|
| 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
Literature references
- Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.;Hannan Fadil M, Stevenson Mark, Bayliss Asha L, Stokes Victoria J, Stewart Michelle, Kooblall Kreepa G, Gorvin Caroline M, Codner Gemma, Teboul Lydia, Wells Sara, Thakker Rajesh V, ;2021;Human molecular genetics;30;880-892; 33729479