About   Help   FAQ
Musk Gene Detail
Summary
  • Symbol
    Musk
  • Name
    muscle, skeletal, receptor tyrosine kinase
  • Synonyms
    MDK4, Nsk1, Nsk2, Nsk3
  • Feature Type
    protein coding gene
  • IDs
    MGI:103581
    NCBI Gene: 18198
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:58285962-58374303 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 31.87 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2812 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103581
 protein coding gene Chr4:58285742-58377848 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028324
 protein coding gene Chr4:57117671-57215521 (+)
A/J MGP_AJ_G0028285
 protein coding gene Chr4:54943384-55032209 (+)
AKR/J MGP_AKRJ_G0028234
 protein coding gene Chr4:56465374-56558278 (+)
BALB/cJ MGP_BALBcJ_G0028304
 protein coding gene Chr4:55097746-55192204 (+)
C3H/HeJ MGP_C3HHeJ_G0028025
 protein coding gene Chr4:56958774-57050213 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028745
 protein coding gene Chr4:59138839-59231137 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026051
 protein coding gene Chr4:51705800-51791796 (+)
CAST/EiJ MGP_CASTEiJ_G0027463
 protein coding gene Chr4:56686080-56819591 (+)
CBA/J MGP_CBAJ_G0027990
 protein coding gene Chr4:61153749-61251149 (+)
DBA/2J MGP_DBA2J_G0028140
 protein coding gene Chr4:54837932-54925691 (+)
FVB/NJ MGP_FVBNJ_G0028107
 protein coding gene Chr4:54061030-54153889 (+)
LP/J MGP_LPJ_G0028239
 protein coding gene Chr4:57227842-57318578 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028131
 protein coding gene Chr4:64280643-64380113 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028781
 protein coding gene Chr4:56662263-56759486 (+)
PWK/PhJ MGP_PWKPhJ_G0027188
 protein coding gene Chr4:54830915-54944220 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027016
 protein coding gene Chr4:55950002-56045853 (+)
WSB/EiJ MGP_WSBEiJ_G0027541
 protein coding gene Chr4:56616947-56710552 (+)



Homology
more
  • Human Ortholog
    MUSK, muscle associated receptor tyrosine kinase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MUSK, muscle associated receptor tyrosine kinase
  • Synonyms
    CMS9, FADS, FADS1
  • Links
    NCBI Gene ID: 4593
    neXtProt AC: NX_O15146
    UniProt: O15146

  • Chr Location
    9q31.3; chr9:110668779-110806558 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Musk mouse models; 2 with human MUSK associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 5 alleles in 5 genetic backgrounds
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation lack neuromuscular synapses and spontaneous movement, and die at birth of respiratory failure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    108
  • GO References
    33
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    938
  • Tissues
    75
  • cDNA Data
    17
  • Literature Summary
    39
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000057280 Ensembl Gene Model | MGI Sequence Detail 88342 C57BL/6J ±  kb
    transcript ENSMUST00000177951 Ensembl | MGI Sequence Detail 3352 Not Applicable  
    polypeptide ENSMUSP00000136696 Ensembl | MGI Sequence Detail 870 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      Genomic 4
      cDNA 18
      Primer pair 1
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-24192, MGD-MRK-24466, MGD-MRK-38403, MGI:103308, MGI:109358
    References
    more
    • Summaries
      All 123
      Developmental Gene Expression 39
      Diseases 2
      Gene Ontology 33
      Phenotypes 27
    • Earliest
      J:27415 Ganju P, et al., Cloning and developmental expression of Nsk2, a novel receptor tyrosine kinase implicated in skeletal myogenesis. Oncogene. 1995 Jul 20;11(2):281-90
    • Latest
      J:353626 Ohkawara B, et al., Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis. J Neurochem. 2024 Apr;168(4):342-354
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory