htt Phenotypes

Summary

Expression

Phenotypes

Gene Literature (11)

XB-GENEPAGE-1013461

Gene Symbol: htt Gene Name: huntingtin

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal cilium assembly (2 sources), obsolete decreased cilium motility in multiciliated cell (2 sources), abnormal cell migration (1 source), abnormal ciliary basal body organization (1 source), abnormal development of eye (1 source), abnormal eye morphology (1 source), abnormally decreased number of cilium in the multiciliated epidermal cell (1 source), abnormally decreased number of multiciliated cell (1 source), abnormally decreased thickness of motor neuron (1 source), abnormally defasciculated motor neuron (1 source), abnormal motor neuron morphology (1 source), abnormal swimming behavior (1 source), abnormal trigeminal nerve morphology (1 source), absent cement gland (1 source), absent trigeminal nerve (1 source), decreased length of anterior-posterior axis (1 source), decreased length of tail (1 source), decreased size of the cilium in the multiciliated epidermal cell (1 source), obsolete decreased cilium motility in ciliated epidermal cell (1 source)

Anatomical Phenotypes

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

abnormal cilium assembly (2 sources), obsolete decreased cilium motility in multiciliated cell (2 sources), abnormal cell migration (1 source), abnormal ciliary basal body organization (1 source), abnormal development of eye (1 source), abnormal eye morphology (1 source), abnormally decreased number of cilium in the multiciliated epidermal cell (1 source), abnormally decreased number of multiciliated cell (1 source), abnormally decreased thickness of motor neuron (1 source), abnormally defasciculated motor neuron (1 source), abnormal motor neuron morphology (1 source), abnormal swimming behavior (1 source), abnormal trigeminal nerve morphology (1 source), absent cement gland (1 source), absent trigeminal nerve (1 source), decreased length of anterior-posterior axis (1 source), decreased length of tail (1 source), decreased size of the cilium in the multiciliated epidermal cell (1 source), obsolete decreased cilium motility in ciliated epidermal cell (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: htt manipulated (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.
Huntington's disease (9AP sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + htt MO (11 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (53 sources): Abnormal cerebral white matter morphology, Abnormal involuntary eye movements, Abnormality of eye movement, Abnormality of movement, Abnormality of the voice, Abnormal pyramidal sign, Absent speech, Agitation, Ankle clonus, Ataxia, Atypical behavior, Axial hypotonia, Bradykinesia, Broad-based gait, Bruxism, Caudate atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Cerebral atrophy, Cerebral cortical atrophy, Chorea, Dementia, Depression, Developmental regression, Dysphagia, Dystonia, EEG abnormality, Feeding difficulties, Gait ataxia, Gliosis, Global developmental delay, Hyperactivity, Hyperreflexia, Intellectual disability, severe, Irritability, Kyphosis, Myoclonus, Myopia, Neuronal loss in basal ganglia, Neuronal loss in central nervous system, Oral motor hypotonia, Personality changes, Progressive cerebellar ataxia, Rigidity, Scoliosis, Seizure, Short foot, Small hand, Spasticity, Tremor, Unsteady gait, Ventriculomegaly, Weight loss [+]
Mouse (100 sources): abnormal amniotic cavity morphology, abnormal brain internal capsule morphology, abnormal brain ventricle morphology, abnormal cell nucleus morphology, abnormal cell proliferation, abnormal cerebellum development, abnormal cerebral aqueduct morphology, abnormal cerebral cortex morphology, abnormal cranium morphology, abnormal developmental patterning, abnormal dorsal striatum morphology, abnormal ear position, abnormal ectoderm development, abnormal egg cylinder morphology, abnormal embryonic/fetal subventricular zone morphology, abnormal embryonic tissue morphology, abnormal extraembryonic endoderm formation, abnormal extraembryonic mesoderm development, abnormal extraembryonic tissue morphology, abnormal gastrulation, abnormal globus pallidus morphology, abnormal learning/memory/conditioning, abnormal locomotor activation, abnormal locomotor coordination, abnormal medium spiny neuron morphology, abnormal motor capabilities/coordination/movement, abnormal motor learning, abnormal nervous system tract morphology, abnormal neuron physiology, abnormal olfactory system morphology, abnormal oligodendrocyte physiology, abnormal postnatal subventricular zone morphology, abnormal Reichert's membrane morphology, abnormal seminiferous tubule morphology, abnormal subthalamic nucleus morphology, abnormal telencephalon morphology, abnormal ventral striatum morphology, abnormal visceral endoderm morphology, absent hippocampal fimbria, absent primitive node, absent somites, behavior/neurological phenotype, decreased body size, decreased brain size, decreased cell proliferation, decreased embryo size, decreased grip strength, decreased locomotor activity, decreased myelin sheath thickness, decreased neocortex volume, decreased oligodendrocyte number, decreased vertical activity, disorganized embryonic tissue, disorganized extraembryonic tissue, domed cranium, embryonic-extraembryonic boundary constriction, embryonic growth arrest, embryonic growth retardation, embryonic lethality between implantation and placentation, incomplete penetrance, embryonic lethality between somite formation and embryo turning, complete penetrance, embryonic lethality, complete penetrance, embryonic lethality during organogenesis, complete penetrance, enhanced coordination, enlarged lateral ventricles, enlarged third ventricle, homeostasis/metabolism phenotype, hunched posture, hyperresponsive, impaired balance, impaired limb coordination, increased aggression towards mice, increased ectoderm apoptosis, increased embryonic epiblast cell apoptosis, increased embryonic tissue cell apoptosis, increased exploration in new environment, increased grooming behavior, increased Reichert's membrane thickness, increased susceptibility to malignant hyperthermia, increased taurine level, increased thigmotaxis, increased vertical activity, lethality throughout fetal growth and development, incomplete penetrance, limb grasping, long stride length, microgliosis, neonatal lethality, complete penetrance, nervous system phenotype, neuronal intranuclear inclusions, neuron degeneration, no abnormal phenotype detected, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, reduced male fertility, short stride length, small amniotic cavity, thick skin [+]
View all ortholog results at Monarch