Gene

musk

ID
ZDB-GENE-030131-6458
Name
muscle, skeletal, receptor tyrosine kinase
Symbol
musk Nomenclature History
Previous Names
  • fj98e12
  • si:busm1-57f23.3 (1)
  • si:dz46m7.2
  • si:dz57f23.3
  • unp
  • unplugged
  • wu:fj98e12
  • zgc:63467
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Enables identical protein binding activity. Acts upstream of or within motor neuron axon guidance; negative regulation of axon extension; and neuromuscular junction development. Located in postsynaptic membrane. Is expressed in adaxial cell; musculature system; pectoral fin; and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Orthologous to human MUSK (muscle associated receptor tyrosine kinase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la011794TgTransgenic insertionUnknownUnknownDNA
musk_unspecifiedUnspecified AlleleUnknownUnknownnot specified
p31cdAllele with one point mutationUnknownMissenseENU
sa1030Allele with one point mutationUnknownPremature StopENU
sa17664Allele with one point mutationUnknownPremature StopENU
sa34861Allele with one point mutationUnknownPremature StopENU
sa41603Allele with one point mutationUnknownSplice SiteENU
sa41604Allele with one point mutationUnknownPremature StopENU
sa41605Allele with one point mutationUnknownPremature StopENU
tbb72Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-musk
    Xue et al., 2023
    MO1-muskN/A (4)
    MO2-muskN/A (4)
    1 - 3 of 3
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    Human Disease
    Associated With musk Human Ortholog
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    congenital myasthenic syndrome 9 Alliance Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
    fetal akinesia deformation sequence syndrome 1 Alliance Fetal akinesia deformation sequence 1 208150
    1 - 2 of 2
    Associated With musk Via Experimental Models
    No data available
    Gene Ontology
    Protein Domains
    Domain, Family, and Site Summary
    Type InterPro ID Name
    Active_site IPR008266 Tyrosine-protein kinase, active site
    Binding_site IPR017441 Protein kinase, ATP binding site
    Conserved_site IPR018056 Kringle, conserved site
    Domain IPR000001 Kringle
    Domain IPR000719 Protein kinase domain
    1 - 5 of 20 Show all
    Domain Details Per Protein
    Protein Additional Resources Length Cell Adhesion and Cytoskeletal Organization Frizzled cysteine-rich domain superfamily Frizzled domain Immunoglobulin domain subtype Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype 2 Kringle Kringle, conserved site Kringle-like fold Kringle superfamily Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Receptor Tyrosine Kinase Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
    UniProtKB:Q8JFU3 InterPro 351
    UniProtKB:Q5J1R8 InterPro 676
    UniProtKB:Q5J1R9 InterPro 941
    UniProtKB:A0AB32U251 InterPro 306
    1 - 4 of 4
    Transcripts
    Genome Browsers
    Genome Build: GRCz11Chromosome: 10
    Type Name Annotation Method Has Havana Data Length (nt) Analysis
    mRNA musk-201 (1) Ensembl 1,614 nt
    mRNA musk-202 (1) Ensembl 2,826 nt
    mRNA musk-203 (1) Ensembl 7,932 nt
    mRNA musk-204 (1) Ensembl 951 nt
    mRNA musk-205 (1) Ensembl 1,608 nt
    1 - 5 of 5
    Interactions and Pathways
    No data available
    Antibodies
    No data available
    Plasmids
    No data available
    Constructs
    Construct Regulatory Region Coding Sequence Species Tg Lines Citations
    Tg(hsp70l:musk-002-MYC)
    • musk
    • Danio rerio
    1 (4)
    Tg(hsp70l:musk-003-MYC)
    • musk
    • Danio rerio
    1 (4)
    Tg(smyhc1:musk-002-MYC)
    • musk
    • Danio rerio
    1 (3)
    Tg(smyhc1:musk-003-MYC)
    • musk
    • Danio rerio
    1 (4)
    1 - 4 of 4
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    Marker Relationships
    1 - 10 of 10
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    Sequences
    Orthology
    Comparative Orthology
    Alliance
    Gene Tree
    Ensembl
    Species Symbol Chromosome Accession # Evidence
    HumanMUSK9
    Conserved genome location (synteny) (1)
    Amino acid sequence comparison (2)
    MouseMusk4
    Amino acid sequence comparison (1)
    Citations
    1 - 10 of 30
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