IMPC phenotypes (gene matching)
C57BL/6N-Fustm2.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16187 |
| Citation information | RRID:IMSR_EM:16187 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 | C57BL/6N-Fustm2.1Ics/Ics |
| Alternative name | Fustm2.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Fustm2.1Ics |
| Gene/Transgene symbol | Fus |
Information from provider
| Provider | Luc Dupuis |
| Provider affiliation | Centre de Recherche en Biomédecine de Strasbourg (CRBS) |
| Genetic information | A loxP site was inserted into intron 12 and a second loxP site, an FRT site-flanked neomycin resistance gene cassette, a synthetic DNA fragment [consisting of last 254 bp of intron 12, fused exon 13 (ENSMUSE00001235788) and 14 (ENSMUSE00001215589) coding sequences and a STOP cassette (containing 3x SV40 poly(A) signal sequences)] were inserted downstream of the gene. The neo cassette was removed through subsequent flp-mediated recombination. This allele expresses the wild-type protein and only after cre-mediated deletion of the endogenous exons 13-15 it will express a protein lacking the NLS sequence, that is encoded by exon 15. |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | C57BL/6N 0.07%, C57BL/6NCrl 62.50%, C57BL/6NTac 37.43% |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
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
Literature references
- Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.;Scekic-Zahirovic Jelena, Sendscheid Oliver, El Oussini Hajer, Jambeau Mélanie, Sun Ying, Mersmann Sina, Wagner Marina, Dieterlé Stéphane, Sinniger Jérome, Dirrig-Grosch Sylvie, Drenner Kevin, Birling Marie-Christine, Qiu Jinsong, Zhou Yu, Li Hairi, Fu Xiang-Dong, Rouaux Caroline, Shelkovnikova Tatyana, Witting Anke, Ludolph Albert C, Kiefer Friedemann, Storkebaum Erik, Lagier-Tourenne Clotilde, Dupuis Luc, ;2016;The EMBO journal;35;1077-97; 26951610