notch1 Phenotypes

Summary

Expression

Phenotypes

Gene Literature (398)

XB-GENEPAGE-479317

Gene Symbol: notch1 Gene Name: notch 1 receptor

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal brain morphology (4 sources), abnormal development of notochord (4 sources), abnormal embryo morphology (3 sources), abnormally increased number of Rohon-Beard neuron (3 sources), abnormally decreased number of Rohon-Beard neuron (2 sources), absent Rohon-Beard neuron (2 sources), decreased cell population proliferation in spinal cord (2 sources), abnormal neural plate (1 source), abnormal neural tube morphology (1 source), abnormally increased number of apoptotic cell (1 source), abnormally increased number of neuron (1 source), absent notochord (1 source), decreased size of the notochord (1 source), decreased size of the proliferative region (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

abnormal brain morphology (4 sources), abnormal development of notochord (4 sources), abnormal embryo morphology (3 sources), abnormally increased number of Rohon-Beard neuron (3 sources), abnormally decreased number of Rohon-Beard neuron (2 sources), absent Rohon-Beard neuron (2 sources), decreased cell population proliferation in spinal cord (2 sources), abnormal neural plate (1 source), abnormal neural tube morphology (1 source), abnormally increased number of apoptotic cell (1 source), abnormally increased number of neuron (1 source), absent notochord (1 source), decreased size of the notochord (1 source), decreased size of the proliferative region (1 source)

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Manual annotations: notch1 manipulated (32 sources), notch1 assayed (1 source)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + canotch1 (19 sources), Xla WT + notch1 ICD [unilateral] (6 sources), Xla WT + notch1 ICD [bilateral] (4 sources), Xla WT + rbpj-DBM RNA [unilateral] (3 sources), Xla WT + rbpj-DBM RNA+ [bilateral] (3 sources), Xla WT + rbpj-DBM RNA+ [bilateral] (2 sources), Xla Wt + canotch1-GR (2 sources), Xla Wt + notch1 (1 source), Xla Wt + canotch1 (1 source), Xla Wt + canotch1 (1 source), Xla Wt + canotch1 + DEX (1 source)

Experiments (Reagents)

These are short form descriptions of experiments using reagents targeting the gene of interest.

Xla Wt + canotch1 (19 sources), Xla WT + notch1 ICD [unilateral] (6 sources), Xla WT + notch1 ICD [bilateral] (4 sources), Xla WT + rbpj-DBM RNA [unilateral] (3 sources), Xla WT + rbpj-DBM RNA+ [bilateral] (3 sources), Xla WT + rbpj-DBM RNA+ [bilateral] (2 sources), Xla Wt + canotch1-GR (2 sources), Xla Wt + notch1 (1 source), Xla Wt + canotch1 (1 source), Xla Wt + canotch1 (1 source), Xla Wt + canotch1 + DEX (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (74 sources): Abnormal left ventricular outflow tract morphology, Abnormal pulmonary valve morphology, Abnormality of the lower limb, Abnormality of the upper limb, Absent fingernail, Absent hand, Aortic arch aneurysm, Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Aplasia cutis congenita, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Arteriovenous malformation, Ascending aortic dissection, Ascites, Bicuspid aortic valve, Brachydactyly, Calvarial skull defect, Cataract, Cavernous hemangioma, Cirrhosis, Coarctation of aorta, Congenital hepatic fibrosis, Cutis marmorata, Cutis marmorata telangiectatica congenita, Double outlet right ventricle, Dystrophic toenail, EEG abnormality, Encephalocele, Esophageal varix, Failure to thrive, Finger aplasia, Finger syndactyly, Gastrointestinal hemorrhage, Heart murmur, Hemiparesis, Hydrocephalus, Hypersplenism, Hypertension, Hypoplastic fingernail, Hypoplastic left heart, Intellectual disability, Leukopenia, Microphthalmia, Mitral atresia, Mitral stenosis, Patent foramen ovale, Periventricular leukomalacia, Porencephalic cyst, Portal hypertension, Portal vein thrombosis, Premature birth, Pulmonary arterial hypertension, Pulmonary artery atresia, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Seizure, Short distal phalanx of finger, Sparse hair, Spasticity, Splenomegaly, Split hand, Strabismus, Syndactyly, Talipes equinovarus, Tetralogy of Fallot, Thoracic aorta calcification, Thrombocytopenia, Umbilical hernia, Ventricular septal defect, obsolete Abnormality of the metacarpal bones, obsolete Hypotrichosis [+]
Mouse (140 sources): Meibomian gland degeneration, abnormal CD8-positive, alpha-beta T cell differentiation, abnormal T cell differentiation, abnormal T cell receptor beta chain V(D)J recombination, abnormal angiogenesis, abnormal anterior cardinal vein morphology, abnormal apoptosis, abnormal artery morphology, abnormal atrioventricular cushion morphology, abnormal bone marrow cavity morphology, abnormal cardiac epithelial to mesenchymal transition, abnormal cell death, abnormal coronary vessel morphology, abnormal dorsal aorta morphology, abnormal embryonic neuroepithelium morphology, abnormal embryonic tissue morphology, abnormal endocrine pancreas morphology, abnormal epicardium morphology, abnormal exocrine pancreas morphology, abnormal hair follicle morphology, abnormal heart development, abnormal heart shape, abnormal hepatic cord morphology, abnormal intersomitic vessel morphology, abnormal left-right axis symmetry of the somites, abnormal liver lobule morphology, abnormal myocardial fiber morphology, abnormal myocardium layer morphology, abnormal nervous system development, abnormal pancreas development, abnormal pancreatic duct morphology, abnormal pancreatic islet morphology, abnormal placenta vasculature, abnormal placental labyrinth vasculature morphology, abnormal renal tubule morphology, abnormal retina blood vessel morphology, abnormal rostral-caudal axis patterning, abnormal sarcomere morphology, abnormal somite development, abnormal somite size, abnormal thymus cell ratio, abnormal thymus morphology, abnormal trabecula carnea morphology, abnormal trigeminal ganglion morphology, abnormal vascular branching morphogenesis, abnormal vascular development, abnormal vasculogenesis, abnormal vitelline vascular remodeling, abnormal vitelline vasculature morphology, abnormal white fat cell differentation, absent coronary vessels, absent epididymal fat pad, absent pancreatic alpha cells, absent pancreatic islets, absent vitelline blood vessels, aortic valve inflammation, cardiovascular system phenotype, craniofacial phenotype, curly vibrissae, decreased CD4-positive, alpha beta T cell number, decreased angiogenesis, decreased bone trabecular spacing, decreased conjunctiva goblet cell number, decreased curvature of zigzag hairs, decreased double-negative T cell number, decreased double-positive T cell number, decreased embryo size, decreased heart right ventricle size, decreased organ of Corti supporting cell number, decreased pancreatic alpha cell number, decreased single-positive T cell number, decreased susceptibility to diet-induced obesity, decreased thymocyte number, deformed nails, delayed heart looping, delayed somite formation, dilated heart left ventricle, dilated liver sinusoidal spaces, diluted coat color, disorganized inner root sheath cells, disorganized myocardium, distended pericardium, dry eyes, embryonic growth arrest, embryonic growth retardation, embryonic lethality, embryonic lethality during organogenesis, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, endocrine/exocrine gland phenotype, focal hair loss, hematopoietic system phenotype, homeostasis/metabolism phenotype, incomplete embryo turning, increased CD8-positive, alpha-beta T cell number, increased T cell apoptosis, increased T cell derived lymphoma incidence, increased angiogenesis, increased apoptosis, increased bone mass, increased bone trabecula number, increased cholangiocarcinoma incidence, increased cochlear inner hair cell number, increased cochlear outer hair cell number, increased grip strength, increased hemangioma incidence, increased immature B cell number, increased liposarcoma incidence, increased liver weight, increased neuron number, increased single-positive T cell number, increased trabecular bone thickness, increased trabecular bone volume, kinked neural tube, kinked tail, lacrimal gland degeneration, lethality throughout fetal growth and development, myocardium hypoplasia, neural tube degeneration, no abnormal phenotype detected, notochord degeneration, osteosclerosis, pale liver, pale yolk sac, perinatal lethality, complete penetrance, postnatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, renal/urinary system phenotype, short hair, short vibrissae, small pharyngeal arch, small sebaceous gland, small thymus, thick aortic valve cusps, thick neurocranium, thin myocardium, thin myocardium compact layer, trabecula carnea hypoplasia, vision/eye phenotype [+]
View all ortholog results at Monarch