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)
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
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