MGI phenotypes (allele matching)
B6.129-Fn1tm2Feb/Cnrm
| Status | Available to order |
| EMMA ID | EM:00069 |
| International strain name | B6.129-Fn1tm2Feb/Cnrm |
| Alternative name | Fn1-del. |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Fn1tm2Feb |
| 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 deletion of the EDA exon sequence. |
| Phenotypic information | Phenotype defects under analysis. |
| References |
|
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 (gene matching)
- abnormal vascular development / MGI
- abnormal heart morphology / MGI
- abnormal heart development / MGI
- distended pericardium / MGI
- abnormal atrioventricular cushion morphology / MGI
- kinked tail / MGI
- absent notochord / MGI
- spontaneous skin ulceration / MGI
- skin lesions / MGI
- anemia / MGI
- abnormal vasculogenesis / MGI
- abnormal mesoderm development / MGI
- incomplete somite formation / MGI
- abnormal gastrulation / MGI
- decreased embryo size / MGI
- incomplete embryo turning / MGI
- abnormal visceral yolk sac morphology / MGI
- absent vitelline blood vessels / MGI
- absent visceral yolk sac blood islands / MGI
- disorganized yolk sac vascular plexus / MGI
- impaired wound healing / MGI
- hemorrhage / MGI
- neoplasm / MGI
- premature death / MGI
- abnormal developmental patterning / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal extraembryonic tissue morphology / MGI
- abnormal neural tube morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal notochord morphology / MGI
- abnormal vitelline vasculature morphology / MGI
- abnormal placenta vasculature / MGI
- kinked neural tube / MGI
- abnormal endocardium morphology / MGI
- embryonic growth retardation / MGI
- abnormal vitelline vascular remodeling / MGI
- failure of initiation of embryo turning / MGI
- abnormal embryonic neuroepithelium morphology / MGI
- absent limb buds / MGI
- abnormal dorsal aorta morphology / MGI
- abnormal amnion morphology / MGI
- homeostasis/metabolism phenotype / MGI
- craniofacial phenotype / MGI
- cardiovascular system phenotype / MGI
- immune system phenotype / MGI
- reproductive system phenotype / MGI
- abnormal vascular smooth muscle morphology / MGI
- abnormal cardiac outflow tract development / MGI
- absent somites / MGI
- abnormal protein level / MGI
- abnormal rostral-caudal patterning of the somites / MGI
- abnormal cardiac jelly morphology / MGI
- failure of chorioallantoic fusion / MGI
- abnormal lateral plate mesoderm morphology / MGI
- thick myocardium / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- decreased fibroblast proliferation / MGI
- short rostral-caudal axis / MGI
- increased tail bud apoptosis / MGI
- head mesenchyme hypoplasia / MGI
- abnormal extracellular matrix morphology / MGI
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
- Phagocytosis of Wnt inhibitor SFRP4 by late wound macrophages drives chronic Wnt activity for fibrotic skin healing.;Gay Denise, Ghinatti Giulia, Guerrero-Juarez Christian F, Ferrer Rubén A, Ferri Federica, Lim Chae Ho, Murakami Shohei, Gault Nathalie, Barroca Vilma, Rombeau Isabelle, Mauffrey Philippe, Irbah Lamya, Treffeisen Elsa, Franz Sandra, Boissonnas Alexandre, Combadière Christophe, Ito Mayumi, Plikus Maksim V, Romeo Paul-Henri, ;2020;Science advances;6;eaay3704; 32219160