STOCK Fkrptm1.1Scbr/H
| Status | Available to order |
| EMMA ID | EM:08500 |
| Citation information | RRID:IMSR_EM:08500 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 | STOCK Fkrptm1.1Scbr/H |
| Alternative name | FKRP Tyr307Asn |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Fkrptm1.1Scbr |
| Gene/Transgene symbol | Fkrp |
Information from provider
| Provider | Susan Brown |
| Provider affiliation | BSU, Mrs Lynn Dorsett |
| Additional owner | Prof. Francesco Muntoni, Chair of Paediatric Neurology, ICH Developmental Neurosciences Program, Institute of Child Health, London, UK |
| Genetic information | Knock-in missense mutation |
| Phenotypic information | Homozygous:No discernable phenotypeHeterozygous:Phenotypically normal |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
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
- Walker-Warburg syndrome / Orphanet_899
- Congenital muscular dystrophy with intellectual disability / Orphanet_370968
- Congenital muscular dystrophy with cerebellar involvement / Orphanet_370959
- FKRP-related limb-girdle muscular dystrophy R9 / Orphanet_34515
- Muscle-eye-brain disease / Orphanet_588
- Congenital muscular dystrophy without intellectual disability / Orphanet_370980
Literature references
- Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.;Ackroyd M R, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy R J, Muntoni F, Brown S C, ;2009;Brain : a journal of neurology;132;439-51; 19155270