- abnormal cerebral cortex morphology / MGI
- decreased body weight / MGI
- edema / MGI
- abnormal vitreous body morphology / MGI
- abnormal tibialis anterior morphology / MGI
- abnormal radial glial cell morphology / MGI
- abnormal extensor digitorum longus morphology / MGI
- centrally nucleated skeletal muscle fibers / MGI
- decreased skeletal muscle fiber number / MGI
- perinatal lethality, complete penetrance / MGI
STOCK Fkrptm1Scbr/ScbrH
Status | Available to order |
EMMA ID | EM:10692 |
Citation information | RRID:IMSR_EM:10692 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 Fkrptm1Scbr/ScbrH |
Alternative name | H4C (Fkrp-NeoTyr307Asn) |
Strain type | Targeted Mutant Strains : Point mutation |
Allele/Transgene symbol | Fkrptm1Scbr |
Gene/Transgene symbol | Fkrp |
Information from provider
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 |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
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
MGI phenotypes (allele matching)
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
- Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.;Booler Helen S, Williams Josie L, Hopkinson Mark, Brown Susan C, ;2016;Brain pathology (Zurich, Switzerland);26;465-78; 26306834
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