B6.129-Fn1tm1Feb/Cnrm
Status | Available to order |
EMMA ID | EM:00070 |
International strain name | B6.129-Fn1tm1Feb/Cnrm |
Alternative name | Fn1-point mut. |
Strain type | Targeted Mutant Strains : Point mutation |
Allele/Transgene symbol | Fn1tm1Feb, |
Gene/Transgene symbol | Fn1 |
Information from provider
Provider | Francisco E. Baralle |
Provider affiliation | ICGEB-Inter.Centre Genetic Engineering Biotechnology |
Genetic information | Modification of the natural alternative splicing pattern of the Fn1 extra domain A (EDA) exon by introduction of point mutations at the EDA exon splicing sites. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Fibronectin glomerulopathy / Orphanet_84090
- Spondylometaphyseal dysplasia, 'corner fracture' type / Orphanet_93315
MGI phenotypes (allele matching)
Literature references
- Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan.;Muro Andres F, Chauhan Anil K, Gajovic Srecko, Iaconcig Alessandra, Porro Fabiola, Stanta Giorgio, Baralle Francisco E, ;2003;The Journal of cell biology;162;149-60; 12847088
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