rb1 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-1018164

Gene Symbol: rb1 Gene Name: retinoblastoma 1

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
neoplastic eye (12 sources), increased cell population proliferation in retina (4 sources), abnormally localised blood vessel (3 sources), increased size of the eye (3 sources), abnormal brain morphology (2 sources), increased cell population proliferation in brain (2 sources), neoplastic lung (2 sources), abnormal axis elongation (1 source), abnormal brain ventricle morphology (1 source), abnormal gastrulation (1 source), abnormal midbrain morphology (1 source), abnormal optic nerve morphology (1 source), abnormal pancreas morphology (1 source), abnormal retina morphology (1 source), abnormally delayed closure of blastopore (1 source), abnormally localised lens (1 source), abnormally necrotic retina (1 source), absent head (1 source), absent tail (1 source), decreased length of anterior-posterior axis (1 source), decreased size of the head (1 source), increased cell population proliferation in adipose tissue (1 source), increased cell population proliferation in midbrain (1 source), increased cell population proliferation in optic nerve (1 source), neoplastic brain (1 source)

Anatomical Phenotypes

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

neoplastic eye (12 sources), increased cell population proliferation in retina (4 sources), abnormally localised blood vessel (3 sources), increased size of the eye (3 sources), abnormal brain morphology (2 sources), increased cell population proliferation in brain (2 sources), neoplastic lung (2 sources), abnormal axis elongation (1 source), abnormal brain ventricle morphology (1 source), abnormal gastrulation (1 source), abnormal midbrain morphology (1 source), abnormal optic nerve morphology (1 source), abnormal pancreas morphology (1 source), abnormal retina morphology (1 source), abnormally delayed closure of blastopore (1 source), abnormally localised lens (1 source), abnormally necrotic retina (1 source), absent head (1 source), absent tail (1 source), decreased length of anterior-posterior axis (1 source), decreased size of the head (1 source), increased cell population proliferation in adipose tissue (1 source), increased cell population proliferation in midbrain (1 source), increased cell population proliferation in optic nerve (1 source), neoplastic brain (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.
Computed annotations: rb1 assayed (1 source)

Diseases Diseases from the human disease ontology (DO) manually associated with phenotypes from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
retinoblastoma (12AP sources), glioblastoma (2AP sources), choroid plexus cancer (1AP source), medulloblastoma (1AP source), pancreatic cancer (1AP source), pineoblastoma (1AP source), trilateral retinoblastoma (1AP source)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xtr Wt + rb1 CRISPR + rbl1 CRISPR (15 sources), Xtr Wt + rbl1 CRISPR + rb1 CRISPR (3 sources), Xtr Wt + rb1 MO (2 sources), Xtr Wt + rb1 CRISPR + rbl1 CRISPR + tp53 CRISPR (1 source), Xtr Wt + rb1 CRISPR + rbl1 CRISPR + tp53 CRISPR + pten CRISPR (1 source), Xtr.tp53em_del1/em_del2_Vlemx + rb1 CRISPR + rbl1 CRISPR (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (45 sources): Abnormal circulating lactate dehydrogenase concentration, Abnormality of metabolism/homeostasis, Abnormality of retinal pigmentation, Abnormality of the femoral metaphysis, Abnormality of the metaphysis, Abnormality of the orbital region, Abnormality of the skeletal system, Abnormality of the tibial metaphysis, Cellulitis, Cleft palate, Elevated circulating alkaline phosphatase concentration, Ewing sarcoma, Fever, Glaucoma, Glioma, Heterochromia iridis, Hyphema, Hypopyon, Increased circulating lactate dehydrogenase concentration, Joint swelling, Leiomyosarcoma, Leukemia, Leukocoria, Lymphoma, Melanoma, Neoplasm of the lung, Osteolysis, Osteosarcoma, Pain, Pathologic fracture, Pinealoma, Pineoblastoma, Proptosis, Red eye, Reduced visual acuity, Retinal calcification, Retinoblastoma, Rhabdomyosarcoma, Strabismus, Subretinal pigment epithelium hemorrhage, Transitional cell carcinoma of the bladder, Uveitis, Vitreous hemorrhage, Vitritis, Weight loss [+]
Mouse (152 sources): abnormal Purkinje cell morphology, abnormal brain interneuron morphology, abnormal cell cycle checkpoint function, abnormal cell differentiation, abnormal cell proliferation, abnormal cerebellar cortex morphology, abnormal cerebellar granule cell morphology, abnormal cerebellar granule layer morphology, abnormal cerebellum external granule cell layer morphology, abnormal cerebellum vermis morphology, abnormal chromosome morphology, abnormal cochlear hair cell morphology, abnormal cochlear outer hair cell morphology, abnormal definitive hematopoiesis, abnormal dorsal root ganglion morphology, abnormal embryo development, abnormal enterocyte proliferation, abnormal epidermis stratum granulosum morphology, abnormal epidermis suprabasal layer morphology, abnormal erythropoiesis, abnormal fertility/fecundity, abnormal fourth ventricle morphology, abnormal frontal lobe morphology, abnormal hearing physiology, abnormal hepatocyte morphology, abnormal lens development, abnormal lens fiber morphology, abnormal macrophage differentiation, abnormal melanocyte morphology, abnormal milk ejection, abnormal mitosis, abnormal myelopoiesis, abnormal myogenesis, abnormal neuroendocrine gland morphology, abnormal neuron differentiation, abnormal neuronal precursor proliferation, abnormal organ of Corti morphology, abnormal organ of Corti supporting cell proliferation, abnormal pilomotor reflex, abnormal pituitary intermediate lobe morphology, abnormal placenta labyrinth morphology, abnormal placental transport, abnormal response/metabolism to endogenous compounds, abnormal retina apoptosis, abnormal retina ganglion layer morphology, abnormal retina horizontal cell morphology, abnormal retina inner nuclear layer morphology, abnormal retina inner plexiform layer morphology, abnormal skeletal muscle morphology, abnormal spine curvature, abnormal third ventricle morphology, abnormal trigeminal ganglion morphology, abnormal utricular macula morphology, abnormal vestibular hair cell morphology, abnormal vestibular hair cell stereociliary bundle morphology, abnormal vestibular system physiology, abnormal white adipose tissue morphology, absent retina bipolar cells, aneuploidy, cellular phenotype, circling, cochlear hair cell degeneration, cochlear outer hair cell degeneration, deafness, decreased apoptosis, decreased brain size, decreased embryo size, decreased erythrocyte cell number, decreased fetal size, decreased hepatocyte number, decreased retina apoptosis, decreased retina ganglion cell number, decreased retina inner nuclear layer thickness, decreased retina photoreceptor cell number, decreased retina rod cell number, decreased sensitivity to induced morbidity/mortality, decreased skeletal muscle fiber density, decreased skeletal muscle mass, decreased testis weight, digestive/alimentary phenotype, dilated liver sinusoidal spaces, disorganized retina inner nuclear layer, ectopic Purkinje cell, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality, complete penetrance, enlarged fourth ventricle, epidermal hyperplasia, hematopoietic system phenotype, hunched posture, hypoxia, impaired swimming, increased Deiters cell number, increased apoptosis, increased body mass index, increased brain size, increased brain weight, increased cell proliferation, increased cochlear hair cell number, increased cochlear inner hair cell number, increased cochlear outer hair cell number, increased fibroblast proliferation, increased lens fiber apoptosis, increased lung tumor incidence, increased lymphoma incidence, increased metastatic potential, increased mitotic index, increased neuron apoptosis, increased nucleated erythrocyte cell number, increased organ of Corti supporting cell number, increased pituitary adenohypophysis tumor incidence, increased pituitary adenoma incidence, increased pituitary gland tumor incidence, increased pituitary melanotroph tumor incidence, increased retina apoptosis, increased sensitivity to induced morbidity/mortality, increased thyroid C-cell carcinoma incidence, increased thyroid tumor incidence, increased tumor incidence, increased vestibular hair cell number, lethality throughout fetal growth and development, complete penetrance, liver hypoplasia, liver/biliary system phenotype, low mean erythrocyte cell number, mammary gland duct hyperplasia, mammary gland hyperplasia, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, pale yolk sac, pericardial edema, perinatal lethality, complete penetrance, pituitary intermediate lobe hyperplasia, polyploidy, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preneoplasia, preweaning lethality, incomplete penetrance, respiratory system phenotype, skin edema, small dorsal root ganglion, small liver, thin cerebellar granule layer, thin external granule cell layer, thin retina inner plexiform layer, thin retina outer nuclear layer, transmission ratio distortion, vestibular hair cell degeneration, vision/eye phenotype [+]
View all ortholog results at Monarch