C3H/HeH-Pkhd1em1H/H
| Status | Available to order |
| EMMA ID | EM:15587 |
| Citation information | RRID:IMSR_EM:15587 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 | C3H/HeH-Pkhd1em1H/H |
| Alternative name | C3H/HeH-Pkhd1em1H/H |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Pkhd1em1H |
| Gene/Transgene symbol | Pkhd1 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | As reported by Mouse Genome Informatics, Pkhd1, a protein coding gene, codes for fibrocystin and is associated with atosomal recessive polycystic kidney disease and polycystic kidney disease in humans and mice, and Caroli syndrome in mice. This is a CRISPR/Cas9 induced mutation creating point mutation T37M in exon ENSMUSE00001279293 of Pkhd1 via microinjection of CRISPR/Cas9 reagents into 1-cell stage embryos. |
| Phenotypic information | Homozygous:To be confirmedHeterozygous:To be confirmed |
| Breeding history | Incepient congenic on maintained background |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| 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
- Autosomal recessive polycystic kidney disease / Orphanet_731
- Caroli disease / Orphanet_53035