pqbp1 Phenotypes

XB-GENEPAGE-6457433

Gene Symbol: pqbp1 Gene Name: polyglutamine binding protein 1

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
decreased length of anterior-posterior axis (9 sources), decreased size of the head (9 sources), decreased size of the tail bud (7 sources), abnormal incomplete closing of the blastopore (6 sources), abnormal neural fold morphology (4 sources), abnormal convergent extension (3 sources), abnormally increased number of apoptotic cell (3 sources), absent tail bud (3 sources), absent neural fold (1 source), decreased cell adhesion in neuroectoderm (1 source)

Anatomical Phenotypes

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

decreased length of anterior-posterior axis (9 sources), decreased size of the head (9 sources), decreased size of the tail bud (7 sources), abnormal incomplete closing of the blastopore (6 sources), abnormal neural fold morphology (4 sources), abnormal convergent extension (3 sources), abnormally increased number of apoptotic cell (3 sources), absent tail bud (3 sources), absent neural fold (1 source), decreased cell adhesion in neuroectoderm (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: pqbp1 manipulated (8 sources)

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.
Renpenning syndrome (10AP sources, 2 EP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + pqbp1 MO (3 sources), Xla Wt + pqbp1 MO (2 sources), Xla Wt + pqbp1 MO (2 sources), Xtr Wt + pqbp1 MO (2 sources), Xla Wt + pqbp1 (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO + wbp11 MO (1 source), Xla Wt + pqbp1 MO + wbp11 MO (1 source)

Experiments (Reagents)

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

Xla Wt + pqbp1 MO (3 sources), Xla Wt + pqbp1 MO (2 sources), Xla Wt + pqbp1 MO (2 sources), Xtr Wt + pqbp1 MO (2 sources), Xla Wt + pqbp1 (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO (1 source), Xla Wt + pqbp1 MO + wbp11 MO (1 source), Xla Wt + pqbp1 MO + wbp11 MO (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (86 sources): Abnormal hair laboratory examination, Abnormal hair morphology, Abnormal rib cage morphology, Abnormal rib morphology, Abnormal thumb morphology, Anal atresia, Ankylosis, Anxiety, Arachnodactyly, Atrial septal defect, Blindness, Brachycephaly, Brittle hair, Broad columella, Bulbous nose, Cachexia, Camptodactyly, Cataract, Cerebral atrophy, Cleft palate, Clinodactyly of the 5th finger, Coloboma, Cupped ear, Decreased testicular size, Diabetes mellitus, Dry hair, Epicanthus, Global developmental delay, Growth delay, Hearing impairment, Heterotaxy, High hypermetropia, High palate, High, narrow palate, Hypermetropia, Hyperreflexia, Hypospadias, Intellectual disability, Iris coloboma, Joint contracture of the hand, Joint stiffness, Long face, Macrodontia, Macroglossia, Macrotia, Malar flattening, Mandibular prognathia, Microcephaly, Micrognathia, Microphthalmia, Nail dystrophy, Narrow face, Narrow foot, Narrow mouth, Nasal speech, Pectus excavatum, Pes cavus, Phimosis, Poor suck, Prominent nose, Protruding ear, Renal hypoplasia, Round ear, Scoliosis, Seizure, Sensorineural hearing impairment, Severe short stature, Short philtrum, Short stature, Situs inversus totalis, Skeletal muscle atrophy, Small face, Sparse hair, Sparse lateral eyebrow, Spastic diplegia, Spasticity, Sprengel anomaly, Strabismus, Tetralogy of Fallot, Thin eyebrow, Thin upper lip vermilion, Triangular face, Upslanted palpebral fissure, Ventricular septal defect, Wide nasal bridge, obsolete Hypotrichosis [+]
Mouse (13 sources): abnormal cell cycle checkpoint function, abnormal dentate gyrus morphology, abnormal hippocampus CA1 region morphology, abnormal hippocampus pyramidal cell layer, abnormal mitosis, abnormal neuronal stem cell morphology, decreased brain size, decreased brain weight, impaired balance, impaired cued conditioning behavior, nervous system phenotype, preweaning lethality, complete penetrance, thin cerebral cortex [+]
View all ortholog results at Monarch