IMPC phenotypes (gene matching)
C57BL/6N-Fbn1tm1.1Ics/Ics
| Status | Available to order |
| EMMA ID | EM:16183 |
| Citation information | RRID:IMSR_EM:16183 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-Fbn1tm1.1Ics/Ics |
| Alternative name | Fbn1tm1.1Ics/Ics |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Fbn1tm1.1Ics |
| Gene/Transgene symbol | Fbn1 |
Information from provider
| Provider | Valerie Cormier-daire |
| Provider affiliation | Centre de Référence Maladies Rares MOC, Service de Génétique MoléculaireHôpital Necker-Enfants Mal |
| Genetic information | The tyrosine codon 1698 (TAC) in exon 42 (ENSMUSE00000325741) was changed to cysteine (TGC) (c.5093A>G p.Y1698C) and a loxP site-flanked neomycin resistance gene cassette was inserted into intron 42. The neo cassette was removed through subsequent cre-mediated recombination. The mutation, in the TB5 domain of the encoded protein, is the equivalent of the human p.Y1698C mutation associated with autosomal dominant geleophysic dysplasia (GD). |
| Phenotypic information | Homozygous:N/AHeterozygous:N/A |
| Breeding history | C57BL/6NTac 100% |
| References |
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| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France |
Disease and phenotype information
Literature references
- The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.;Delhon Laure, Mougin Zakaria, Jonquet Jérémie, Bibimbou Angélique, Dubail Johanne, Bou-Chaaya Cynthia, Goudin Nicolas, Le Goff Wilfried, Boileau Catherine, Cormier-Daire Valérie, Le Goff Carine, ;2022;Human molecular genetics;31;3777-3788; 35660865