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Protein Coding Gene : Myo6 myosin VI

Primary Identifier  MGI:104785 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  17920
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable actin filament binding activity; identical protein binding activity; and microfilament motor activity. Involved in postsynaptic neurotransmitter receptor internalization and presynaptic modulation of chemical synaptic transmission. Acts upstream of or within several processes, including cellular response to electrical stimulus; inner ear development; and nervous system development. Located in several cellular components, including brush border; neuronal cell body; and perinuclear region of cytoplasm. Is active in several cellular components, including Schaffer collateral - CA1 synapse; cochlear hair cell ribbon synapse; and postsynaptic actin cytoskeleton. Is expressed in cerebral cortex ventricular layer; ear; heart; skeletal muscle; and stomach. Used to study autosomal dominant nonsyndromic deafness 22 and autosomal recessive nonsyndromic deafness 37. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 22; autosomal recessive nonsyndromic deafness 37; ovarian cancer; and sensorineural hearing loss. Orthologous to human MYO6 (myosin VI).
PHENOTYPE: Homozygous mutant mice exhibit deafness and related behavioral characteristics such as circling, head tossing and hyperactivity. Progressive degeneration of the cochlear hair cells and the organ of Corti is observed with one mutation. [provided by MGI curators]
  • synonyms:
  • BC029719,
  • cDNA sequence BC029719,
  • MGD-MRK-28077,
  • myosin VI,
  • Rinshoken shaker/waltzer,
  • tailchaser,
  • sv,
  • rsv,
  • MGD-MRK-14657,
  • Myo6<rsv>,
  • MGI:6160068,
  • Tlc,
  • Snell's waltzer,
  • MGI:2670991,
  • MGI:1891332,
  • Myo6

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

18 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For