Htt Gene Summary [Mouse]
Enables diazepam binding activity. Involved in several processes, including positive regulation of CAMKK-AMPK signaling cascade; postsynapse to nucleus signaling pathway; and regulation of protein localization to nucleus. Acts upstream of or within several processes, including nervous system development; positive regulation of cilium assembly; and transport along microtubule. Located in several cellular components, including centriole; inclusion body; and perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; olfactory epithelium; peripheral nervous system; retina; and testis. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Retained Intron |
| Official Symbol | Htt |
| Official Name | huntingtin [Source:MGI Symbol;Acc:MGI:96067] |
| Ensembl ID | ENSMUSG00000029104 |
| Bio databases IDs | |
| Aliases | huntingtin |
| Synonyms | AI256365, C430023I11RIK, HD, HDH, HUNTINGTIN, IT15, LOC100503657, LOMARS |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Htt often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- PLDLS motif
- heat shock protein binding
- transcription factor binding
- Cdk5 phosphorylation site
- identical protein binding
- zDHHC ankyrin repeat binding domain
- proline rich domain
- polyalanine repeat
- profilin binding
- nuclear receptor binding domain
- cytoskeletal protein binding
- protein phosphatase
- dynein intermediate chain binding
- glutamine repeat domain
- ion channel binding
- dynein interacting domain
- beta-tubulin binding
- palmitoylation site
- polyserine repeat
- Huntingtin protein region
- unstructured proteolytic susceptibility domain
- protein binding
- receptor binding
- p53 binding
- polyproline motif
- PAR domain
- HEAT repeat
- binding protein
- kinase binding
- polyglutamine repeat
- caspase-6 cleavage site
Pathways
Biological processes and signaling networks where the Htt gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- heart failure
- neurodegeneration
- reactive gliosis
- Huntington disease
- weight loss
- tremor
- motor dysfunction
- gliosis
- resting tremor
phenotypes
- abnormal Reichert's membrane morphology
- abnormal amniotic cavity morphology
- abnormal anterior commissure morphology
- abnormal behavior
- abnormal blood vessel morphology
- abnormal brain morphology
- abnormal brain ventricle morphology
- abnormal cell nucleus morphology
- abnormal cell physiology
- 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 ear shape
- abnormal ectoderm development
- abnormal egg cylinder morphology
- abnormal embryonic tissue morphology
- abnormal embryonic/fetal subventricular zone morphology
- abnormal extraembryonic endoderm formation
- abnormal extraembryonic mesoderm development
- abnormal extraembryonic tissue morphology
- abnormal forebrain morphology
- abnormal gait
- abnormal gastrulation
- abnormal globus pallidus morphology
- abnormal head morphology
- abnormal hippocampus morphology
- abnormal lateral ventricle morphology
- abnormal learning/memory/conditioning
- abnormal locomotor activation
- abnormal locomotor coordination
- abnormal medium spiny neuron morphology
- abnormal midbrain morphology
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal motor learning
- abnormal myelination
- abnormal nervous system physiology
- abnormal nervous system tract morphology
- abnormal neuron morphology
- abnormal neuron physiology
- abnormal olfactory bulb morphology
- abnormal olfactory system morphology
- abnormal oligodendrocyte physiology
- abnormal postnatal subventricular zone morphology
- abnormal striatum morphology
- abnormal subthalamic nucleus morphology
- abnormal telencephalon morphology
- abnormal thalamus morphology
- abnormal ventral striatum morphology
- abnormal visceral endoderm morphology
- absent hippocampal fimbria
- absent primitive node
- astrocytosis
- bradykinesia
- brain atrophy
- decreased body size
- decreased body weight
- decreased brain size
- decreased cell proliferation
- decreased embryo size
- decreased grip strength
- decreased myelin sheath thickness
- decreased neocortex volume
- decreased oligodendrocyte number
- decreased vertical activity
- dilated lateral ventricles
- disorganized embryonic tissue
- disorganized extraembryonic tissue
- domed cranium
- dysmyelination
- embryonic growth arrest
- embryonic lethality between implantation and placentation incomplete penetrance
- embryonic lethality between somite formation and embryo turning complete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality complete penetrance
- embryonic-extraembryonic boundary constriction
- enhanced coordination
- enlarged lateral ventricles
- enlarged third ventricle
- exencephaly
- gliosis
- hunched posture
- hyperactivity
- hyperresponsive
- hypoactivity
- impaired balance
- impaired coordination
- impaired limb coordination
- increased Reichert's membrane thickness
- 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 susceptiblity to malignant hyperthermia
- increased taurine level
- increased thigmotaxis
- increased vertical activity
- lethality throughout fetal growth and development incomplete penetrance
- limb grasping
- long stride length
- lowered ear position
- microgliosis
- neonatal lethality complete penetrance
- neuron degeneration
- neuronal intranuclear inclusions
- no abnormal phenotype detected
- paralysis
- perinatal lethality complete penetrance
- perinatal lethality incomplete penetrance
- premature death
- prenatal lethality complete penetrance
- prenatal lethality incomplete penetrance
- preweaning lethality complete penetrance
- seizures
- short stride length
- small amniotic cavity
- thick skin
- tonic-clonic seizures
- tremors
- weight loss
role in cell
- apoptosis
- cell death
- production in
- activation in
- expression in
- autophagy by
- growth
- endoplasmic reticulum stress response
- degradation in
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- soluble fraction
- membrane fraction
- aggregate
- glutaminergic synapse
- perinuclear tubulovesicular membrane
- cytoplasmic vesicle membrane
- cytoplasmic ribonucleoprotein granule
- intracellular structures
- cytoskeleton
- cell borders
- cell periphery
- intracellular space
- perinuclear region
- membrane surface
- cellular membrane
- filamentous network
- cell cortex
- Nucleus
- vacuole
- Plasma Membrane
- endosomes
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- centriole
- Mitochondria
- microtubules
- cytoplasmic particles
- granules
- cytosol
- vesicle membrane
- endoplasmic reticulum compartments
- caveolae
- synaptic membrane
- mitochondrial membrane
- mitochondrial outer membrane
- mitochondrial inner membrane
- endosomal compartment
- interchromatin space
- nucleoplasm
- nucleoli
- synaptic vesicles
- neurites
- nerve ending
- dendritic trees
- dendrite initial segments
- synapse
- autophagic vacuoles
- early endosomes
- late endosomes
- cytoplasmic vesicles
- endocytotic vesicle
- multivesicular bodies
- membrane rafts
- PML nuclear bodies
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- primary dendritic arbors
- secondary dendritic arbors
- clathrin-coated vesicles
- paraspeckle-like structures
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Htt gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retrograde vesicle-mediated transport, Golgi to ER
- Golgi organization
- vocal learning
- regulation of phosphoprotein phosphatase activity
- positive regulation of flagellum assembly
- protein destabilization
- establishment of mitotic spindle orientation
- vesicle transport along microtubule
- apoptotic process
- positive regulation of apoptotic process
- negative regulation of extrinsic apoptotic signaling pathway
- regulation of cAMP-dependent protein kinase activity
- positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
Cellular Component
Where in the cell the gene product is active
- late endosome
- endoplasmic reticulum
- Golgi apparatus
- autophagic vacuole
- nucleoplasm
- nucleus
- dendrite
- cytoplasmic vesicle membrane
- early endosome
- perinuclear region of cytoplasm
- cytoplasm
- centriole
- cytosol
- macromolecular complex
- inclusion body
- axon
Molecular Function
What the gene product does at the molecular level
- heat shock protein binding
- identical protein binding
- p53 binding
- protein binding
- dynactin binding
- beta-tubulin binding
- dynein intermediate chain binding
- ion channel binding
- kinase binding
- profilin binding