IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
C57BL/6J-Prps1em2H/H
| Status | Available to order |
| EMMA ID | EM:13029 |
| Citation information | RRID:IMSR_EM:13029 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-Prps1em2H/H |
| Alternative name | Prps1-R214W-EM2-B6 |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Prps1em2H |
| Gene/Transgene symbol | Prps1 |
Information from provider
| Provider | MRC-Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | For detailed information on the genetic description of this strain, please have a look at this report. |
| Phenotypic information | Homozygous: Unknown Heterozygous: Possibly males not viable - having to IVF this one |
| Breeding history | Co-isogenic on original 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
- X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome / Orphanet_423479
- Lethal ataxia with deafness and optic atrophy / Orphanet_1187
- Severe phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411543
- X-linked non-syndromic sensorineural deafness type DFN / Orphanet_90625
- X-linked Charcot-Marie-Tooth disease type 5 / Orphanet_99014
- Mild phosphoribosylpyrophosphate synthetase superactivity / Orphanet_411536