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Summary Expression Phenotypes Gene Literature (24) GO Terms (4) Nucleotides (203) Proteins (24) Interactants (385) Wiki

rb1     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)
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 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 lactate dehydrogenase level, 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, [+]
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, [+]

View all ortholog results at Monarch