|Institutional Source||Beutler Lab|
|Gene Name||kit ligand|
|Synonyms||Gb, grizzle-belly, Mgf, SCF, SF, Sl, SLF, Steel, Steel factor, stem cell factor|
|Is this an essential gene?||Possibly non essential (E-score: 0.325)|
|Stock #||R5135 (G1)|
|Chromosomal Location||100015630-100100416 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 100088222 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000151554 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020129] [ENSMUST00000105283] [ENSMUST00000218200]|
|Meta Mutation Damage Score||0.9483|
|Coding Region Coverage||
|Validation Efficiency||98% (82/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kitl||
(F):5'- TGCTAAAAGACAAGCACCGG -3'
(R):5'- AATGTGCCTTCCCAGACACTATTC -3'
(F):5'- GTGACGGTGGCTCAGTTGC -3'
(R):5'- GCCTTCCCAGACACTATTCATAGG -3'