Kitl MGI Mouse Gene Detail - MGI:96974 - kit ligand

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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
Alliance

gene page
Transcription Start Sites

13 TSS
Candidate for QTL

3 QTL

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Sequence Map

Chr10:99851492-99936278 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 51.40 cM
Mapping Data

52 experiments

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SNPs within 2kb

1120 from dbSNP Build 142
Strain Annotations

18
RFLP

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates	Select Strains
C57BL/6J	MGI_C57BL6J_96974	protein coding gene	Chr10:99851477-99936278 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017689	protein coding gene	Chr10:101871849-101963601 (+)
A/J	MGP_AJ_G0017668	protein coding gene	Chr10:98165569-98251097 (+)
AKR/J	MGP_AKRJ_G0017628	protein coding gene	Chr10:100965612-101054692 (+)
BALB/cJ	MGP_BALBcJ_G0017632	protein coding gene	Chr10:98476803-98565626 (+)
C3H/HeJ	MGP_C3HHeJ_G0017455	protein coding gene	Chr10:100997089-101085542 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018088	protein coding gene	Chr10:105404476-105502604 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015768	protein coding gene	Chr10:93575706-93662258 (+)
CAST/EiJ	MGP_CASTEiJ_G0017018	protein coding gene	Chr10:101105167-101205619 (+)
CBA/J	MGP_CBAJ_G0017424	protein coding gene	Chr10:109481447-109582800 (+)
DBA/2J	MGP_DBA2J_G0017530	protein coding gene	Chr10:97256881-97342991 (+)
FVB/NJ	MGP_FVBNJ_G0017523	protein coding gene	Chr10:96461120-96547674 (+)
LP/J	MGP_LPJ_G0017604	protein coding gene	Chr10:102460705-102562922 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017553	protein coding gene	Chr10:110756939-110847279 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018126	protein coding gene	Chr10:100939138-101032261 (+)
PWK/PhJ	MGP_PWKPhJ_G0016800	protein coding gene	Chr10:97387232-97473857 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016589	protein coding gene	Chr10:99810517-99905138 (+)
WSB/EiJ	MGP_WSBEiJ_G0017078	protein coding gene	Chr10:100944334-101031327 (+)

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Human Ortholog

KITLG, KIT ligand

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KITLG, KIT ligand
Synonyms

DCUA, DFNA69, FPH2, FPHH, Kitl, KL-1, MGF, SCF, SF, SHEP7, SLF, WS2F
Links

HGNC:6343

NCBI Gene ID: 4254

neXtProt AC: NX_P21583

UniProt: P21583
Chr Location

12q21.32; chr12:88492793-88580851 (-) GRCh38

MGI Vertebrate Homology

Kitl stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KITLG
Protein SuperFamily

SCF
Gene Tree

Kitl

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Diseases

4 with human KITLG associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 69 IDs autosomal dominant nonsyndromic deafness 69 DOID:0110590 ICD10CM:H90.3 OMIM:616697
				familial progressive hyperpigmentation with or without hypopigmentation IDs familial progressive hyperpigmentation with or without hypopigmentation DOID:0111373 OMIM:145250
				pigmentation disease IDs pigmentation disease DOID:10123 ICD9CM:709.09 UMLS_CUI:C0375489
				Waardenburg syndrome IDs Waardenburg syndrome DOID:9258 MESH:D014849 NCI:C75008 NCI:C85222 OMIM:PS193500 ORDO:3440 ORDO:895 UMLS_CUI:C0079661 UMLS_CUI:C1847800 UMLS_CUI:C3266898

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

96 phenotypes from 54 alleles in 49 genetic backgrounds
90 phenotypes from multigenic genotypes
10 images
234 phenotype references

Phenotype Overview

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

83
Chemically and radiation induced

8
Chemically induced (ENU)

17
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

2
Radiation induced

15
Spontaneous

21
Targeted

10
Transgenic

2
Genomic Mutations

9 involving Kitl
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

92 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

65
GO References

23

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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

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

1413
Tissues

383
cDNA Data

112
Literature Summary

122

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA KITLG

Xenbase kitlg

ZFIN kitlga, kitlgb

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All Sequences

70
RefSeq

10
UniProt

5
CCDS

CCDS36046.1, CCDS83751.1

Ensembl

ENSMUSG00000019966 (Evidence)
NCBI Gene

17311

Representative Sequences				Length	Strain/Species	Flank
	genomic	ENSMUSG00000019966	Ensembl Gene Model \| MGI Sequence Detail	84787	C57BL/6J	± kb
	transcript	ENSMUST00000105283	Ensembl \| MGI Sequence Detail	5648	Not Applicable
	polypeptide	ENSMUSP00000100920	Ensembl \| MGI Sequence Detail	273	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000009345 kit ligand

(term hierarchy)
PDB

2O26, 2O27
InterPro Domains

IPR009079 Four-helical cytokine-like, core

IPR003452 Stem cell factor

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All nucleic 158

Genomic 12

cDNA 118

Primer pair 19

Other 9

Microarray probesets 6

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

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Summaries

All 579

Developmental Gene Expression 122

Diseases 1

Gene Ontology 23

Phenotypes 234
Earliest

J:3399 Sarvella PA, et al., Steel, a new dominant gene in the house mouse: With effects on coat pigment and blood. J Hered. 1956;47(3):123-128
Latest

J:344559 Hughes CHK, et al., Steroidogenic factor 1 (SF-1; Nr5a1) regulates the formation of the ovarian reserve. Proc Natl Acad Sci U S A. 2023 Aug 8;120(32):e2220849120

TSS for Kitl:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr95553	Chr10:99851679-99851695 (+)	195 bp
Tssr95554	Chr10:99855146-99855151 (+)	3,657 bp
Tssr95555	Chr10:99862922-99862939 (+)	11,439 bp
Tssr95556	Chr10:99873990-99873998 (+)	22,502 bp
Tssr95557	Chr10:99886712-99886717 (+)	35,223 bp
Tssr95558	Chr10:99912156-99912160 (+)	60,666 bp
Tssr95559	Chr10:99932381-99932385 (+)	80,891 bp
Tssr95560	Chr10:99932885-99932897 (+)	81,399 bp
Tssr95561	Chr10:99933998-99934016 (+)	82,515 bp
Tssr95562	Chr10:99934436-99934453 (+)	82,953 bp
Tssr95563	Chr10:99934926-99934944 (+)	83,443 bp
Tssr95564	Chr10:99935027-99935044 (+)	83,544 bp
Tssr95565	Chr10:99935687-99935703 (+)	84,203 bp

Kitl is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bgeq8	Chr10, 66.75 cM		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Bgeq8 (57 cM) on mouse Chromosome 10 as identified by ExQuest are Rdh7 and Hsd17b9. Hsd17b9 exhibits 9.5-fold increased expression in the liver of Tally Ho compared to C57BL/6J animals. For QTLs Insq9 (44 cM) and Igfbp3q2 (46 cM), potential candidate genes Ass1 (20 cM Chr 2)), Ftcd, Col18a1 (41.3 cM), Itgb2 (41.5 cM), Agpat3 (41.8 cM), Ndufs7, Oaz1 (43 cM), Pah (47 cM), Igf1 (48 cM), Nr1h4 (50 cM), and Kitl (57 cM) were identified.
Igfbp3q2	Chr10, syntenic		J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Bgeq8 (57 cM) on mouse Chromosome 10 as identified by ExQuest are Rdh7 and Hsd17b9. Hsd17b9 exhibits 9.5-fold increased expression in the liver of Tally Ho compared to C57BL/6J animals. For QTLs Insq9 (44 cM) and Igfbp3q2 (46 cM), potential candidate genes Ass1 (20 cM Chr 2)), Ftcd, Col18a1 (41.3 cM), Itgb2 (41.5 cM), Agpat3 (41.8 cM), Ndufs7, Oaz1 (43 cM), Pah (47 cM), Igf1 (48 cM), Nr1h4 (50 cM), and Kitl (57 cM) were identified.
Insq9	Chr10, 39.72 cM	Chr10:82490938-82491121	J:99477	Authors used novel data mining tool ExQuest to identify novel candidate genes for existing diabesity QTLs. Next, candidate gene expression in the liver, adipose, and pancreas of diabesity-prone Tally Ho mice and diabesity-resistant C57BL/6J mice was assessed by quantitative PCR analysis. Several potential candidate genes, some with no previous association to diabesity QTLs, were identified. Since QTL intervals may be large and could contain hundreds or thousands of potential candidate genes, this method allows researchers to focus on those with strong potential as well as identify novel candidate genes. Potential candidate genes for Bgeq8 (57 cM) on mouse Chromosome 10 as identified by ExQuest are Rdh7 and Hsd17b9. Hsd17b9 exhibits 9.5-fold increased expression in the liver of Tally Ho compared to C57BL/6J animals. For QTLs Insq9 (44 cM) and Igfbp3q2 (46 cM), potential candidate genes Ass1 (20 cM Chr 2)), Ftcd, Col18a1 (41.3 cM), Itgb2 (41.5 cM), Agpat3 (41.8 cM), Ndufs7, Oaz1 (43 cM), Pah (47 cM), Igf1 (48 cM), Nr1h4 (50 cM), and Kitl (57 cM) were identified.

*cM position of peak correlated region/marker

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