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Kitl Gene Detail
Summary
  • Symbol
    Kitl
  • Name
    kit ligand
  • Synonyms
    blz, Gb, grizzle-belly, Kitl, Mgf, SCF, SF, Sl, SLF, Steel, Steel factor, stem cell factor
  • Feature Type
    protein coding gene
  • IDs
    MGI:96974
    NCBI Gene: 17311
  • Gene Overview
    MyGene.info: KITLG
Location & Maps
more
  • Sequence Map
    Chr10:100015630-100100413 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      84784 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 51.40 cM
  • Mapping Data
    52 experiments
Homology
more
  • Human Ortholog
    KITLG, KIT ligand
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KITLG, KIT ligand
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DCUA, DFNA69, FPH2, FPHH, Kitl, KL-1, MGF, SCF, SF, SHEP7
  • Links
    NCBI Gene ID: 4254
    neXtProt AC: NX_P21583

  • Chr Location
    12q22; chr12:88492793-88580473 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human KITLG associations

Human Disease Mouse Models
       Deafness, Autosomal Dominant 69; DFNA69   OMIM: 616697
Hyperpigmentation with or without Hypopigmentation, Familial Progressive;   OMIM: 145250
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    135 phenotypes from 59 alleles in 59 genetic backgrounds
    26 phenotypes from multigenic genotypes
    10 images
    203 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.
  • All Mutations and Alleles
    79
  • Chemically and radiation induced
    8
  • Chemically induced (ENU)
    15
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Radiation induced
    15
  • Spontaneous
    21
  • Targeted
    10
  • Transgenic
    5
  • Genomic Mutations
    9 involving Kitl
  • Incidental Mutations
Mutations in this gene affect migration of embryonic stem cells and cause similar phenotypes to mutations in its receptor gene (Kit). Mutants show mild to severe defects in pigmentation, hemopoiesis and reproduction.
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 OTTMUSG00000020799 VEGA Gene Model | MGI Sequence Detail 84784 C57BL/6J ±  kb
transcript OTTMUST00000049195 VEGA | MGI Sequence Detail 5645 Not Applicable  
polypeptide OTTMUSP00000022753 VEGA | MGI Sequence Detail 273 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1120 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 140
    Genomic 12
    cDNA 113
    Primer pair 10
    Other 5

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-10006, MGD-MRK-12219, MGD-MRK-14435, MGD-MRK-2018, MGD-MRK-2093, MGI:5304521
References
more
  • Summaries
    All 451
    Developmental Gene Expression 96
    Gene Ontology 20
    Phenotypes 203
  • Earliest
    J:104625 Russell LB, et al., Steel (Sl) and Pearl (pe). Mouse News Lett. 1953;8:14
  • Latest
    J:229960 Acar M, et al., Deep imaging of bone marrow shows non-dividing stem cells are mainly perisinusoidal. Nature. 2015 Oct 1;526(7571):126-30

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory