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Summary Expression Phenotypes Gene Literature (10) GO Terms (2) Nucleotides (223) Proteins (55) Interactants (1090) Wiki

htt     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), 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), abnormal motor neuron morphology (1 source), abnormal swimming behavior (1 source), abnormal trigeminal nerve 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), absent cement gland (1 source), absent trigeminal nerve (1 source), decreased cilium motility in ciliated epidermal cell (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)
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)
Computed annotations: htt 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.
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, Abnormal pyramidal sign, Abnormality of eye movement, Abnormality of movement, Abnormality of the voice, Absent speech, Agitation, Ankle clonus, Ataxia, [+]
Mouse (100 sources): abnormal Reichert's membrane morphology, 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, [+]

View all ortholog results at Monarch