IMPC phenotypes (gene matching)
C3H.Cg-Fusem2(FUS*Q519I)Emcf/H
| Status | Available to order |
| EMMA ID | EM:15900 |
| Citation information | RRID:IMSR_EM:15900 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 | C3H.Cg-Fusem2(FUS*Q519I)Emcf/H |
| Alternative name | Fus |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Fusem2(FUS*Q519)Emcf |
| Gene/Transgene symbol | Fus |
Information from provider
| Provider | Elizabeth Fisher |
| Provider affiliation | Neuromuscular Diseases, UCL Queen Square Institute of Neurology |
| Additional owner | This strain is co-owned by UCL and MRC Harwell |
| Genetic information | CRISPR edit of an existing BAC insertion (Fustm3.1(FUS)Emcf) to carry the Q519 frameshift, and an additional silent change to prevent re-processing of the engineered allele. |
| Breeding history | Maintained on C3H/HeH. Backcrossed for 8 generations. |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| 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
- Amyotrophic lateral sclerosis / Orphanet_803
- Juvenile amyotrophic lateral sclerosis / Orphanet_300605
MGI phenotypes (gene matching)
- small thymus / MGI
- motor neuron degeneration / MGI
- decreased motor neuron number / MGI
- abnormal neuromuscular synapse morphology / MGI
- small testis / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal gait / MGI
- abnormal suckling behavior / MGI
- impaired limb coordination / MGI
- increased mortality induced by gamma-irradiation / MGI
- postnatal growth retardation / MGI
- reduced female fertility / MGI
- male infertility / MGI
- decreased litter size / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- lymphoid hypoplasia / MGI
- abnormal immunoglobulin level / MGI
- no phenotypic analysis / MGI
- abnormal chromosome morphology / MGI
- aneuploidy / MGI
- chromosome breakage / MGI
- decreased lymphocyte cell number / MGI
- decreased B cell number / MGI
- abnormal male meiosis / MGI
- abnormal hippocampus pyramidal cell morphology / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI