| Status | Available to order |
| EMMA ID | EM:10692 |
| International strain name | STOCK Fkrptm1Scbr/ScbrH |
| Alternative name | H4C (Fkrp-NeoTyr307Asn) |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Fkrptm1Scbr |
| Gene/Transgene symbol | Fkrp |
| Provider | Susan Brown |
| Provider affiliation | Comparative Biomedical Science, Royal Veterinary College |
| Additional owner | Prof. Francesco Muntoni, Institute of Child Health, University College London and Dr. Susan Brown, Royal Veterinary College, University of London, UK |
| Genetic information | Knock-in missense mutation in fukutin related protein (Fkrp) together with loxP flanked neomycin cassette in intron 2 of the gene. |
| Phenotypic information | Homozygous:Fkrp knock-down mice homozygous for the mutation die within the first 48 hours after birth. Mutants are smaller than heterozygous littermates and invariably die within the first 24 hours.Heterozygous:Heterozygotes are asymptomatic. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
