IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
C57BL/6J-Prps1em2H/H
| Status | Available to order |
| EMMA ID | EM:13029 |
| 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:UnknownHeterozygous: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