C3H/HeH-Pkhd1em1H/H
| Status | Available to order |
| EMMA ID | EM:15587 |
| 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