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Mkln1 Gene Detail
Summary
  • Symbol
    Mkln1
  • Name
    muskelin 1, intracellular mediator containing kelch motifs
  • Synonyms
    A130067F06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351638
    NCBI Gene: 27418
  • Gene Overview
    MyGene.info: MKLN1
Location & Maps
more
  • Sequence Map
    Chr6:31398735-31516811 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      118077 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 12.57 cM, cytoband B1-B2
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MKLN1, muskelin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MKLN1, muskelin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    TWA2
  • Links
    NCBI Gene ID: 4289
    neXtProt AC: NX_Q9UL63

  • Chr Location
    7q32; chr7:131110096-131496639 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    21
  • Gene trapped
    20
  • Targeted
    1
  • Incidental Mutations
Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014731 VEGA Gene Model | MGI Sequence Detail 118077 C57BL/6J ±  kb
transcript OTTMUST00000034972 VEGA | MGI Sequence Detail 11395 Not Applicable  
polypeptide OTTMUSP00000015619 VEGA | MGI Sequence Detail 735 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    396 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    cDNA 19
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGI:2141552, MGI:2141734, MGI:2441780
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Gene Ontology 3
    Phenotypes 8
  • Earliest
    J:59277 Adams JC, et al., Muskelin, a novel intracellular mediator of cell adhesive and cytoskeletal responses to thrombospondin-1. EMBO J. 1998 Sep 1;17(17):4964-74
  • Latest
    J:174709 Heisler FF, et al., Muskelin regulates actin filament- and microtubule-based GABA(A) receptor transport in neurons. Neuron. 2011 Apr 14;70(1):66-81

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory