Kitl MGI Mouse Gene Detail - MGI:96974

Kitl Gene Detail

Symbol

Kitl
Name

kit ligand
Synonyms

blz, Gb, grizzle-belly, Kitlg, 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

Sequence Map

Chr10:100015630-100100413 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

84784 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 51.40 cM
Mapping Data

52 experiments

Human Ortholog

KITLG, KIT ligand

Vertebrate Orthologs

9

Human Ortholog

KITLG, KIT ligand
Orthology source: HomoloGene, HGNC
Synonyms

DCUA, DFNA69, FPH2, FPHH, Kitl, KL-1, MGF, SCF, SF, SHEP7
Links

HGNC:6343

NCBI Gene ID: 4254

neXtProt AC: NX_P21583
Chr Location

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

HomoloGene

Vertebrate Homology Class 692
1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 frog, western clawed
HCOP

human homology predictions: KITLG
Protein SuperFamily

Kit ligand precursor/stem cell factor
Gene Tree

Kitl

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.

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Phenotype Summary

135 phenotypes from 59 alleles in 59 genetic backgrounds
26 phenotypes from multigenic genotypes
10 images
204 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

Mutagenetix , APF

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.

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All GO Annotations

40
GO References

20

External Resources

FuncBase

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

629
Tissues

355
cDNA Data

108
Literature Summary

96

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO
Other Vertebrate Links

GEISHA KITLG

Xenbase kitlg

ZFIN kitlga, kitlgb

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Kitl interacts with 423 markers (Mir1a-1, Mir1a-2, Mir1b, ...) View All

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All Sequences

51
RefSeq

8
UniProt

4
CCDS

CCDS36046.1
UniGene

45124

			Length	Strain/Species	Flank
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

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SNPs within 2kb

1120 from dbSNP Build 142

RFLP

17

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UniProt

4 Sequences
Protein Ontology

PR:000009345 kit ligand
PDB

2O26, 2O27
InterPro Domains

IPR012351 Four-helical cytokine, core

IPR009079 Four-helical cytokine-like, core

IPR003452 Stem cell factor

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All nucleic 140

Genomic 12

cDNA 113

Primer pair 10

Other 5

Microarray probesets 6

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MGD-MRK-10006, MGD-MRK-12219, MGD-MRK-14435, MGD-MRK-2018, MGD-MRK-2093, MGI:5304521

Summaries

All 451

Developmental Gene Expression 96

Gene Ontology 20

Phenotypes 204
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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