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KitlSl-20J
Spontaneous Allele Detail
Summary
Symbol: KitlSl-20J
Name: kit ligand; steel 20 Jackson
MGI ID: MGI:2682007
Gene: Kitl  Location: Chr10:99851492-99936278 bp, + strand  Genetic Position: Chr10, 51.4 cM
Alliance: KitlSl-20J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsLong-range PCR demonstrated that this mutation is an in-frame tandem duplication of exon 3 which also involves duplication of introns 3 and 2. At the junction between intron 3 and intron 2 there is an inverted 141 bp duplication of a sequence found later in intron 2. The duplication of exon 3 results in a loss of function in the expressed protein due either to defective binding to its receptor or failure to activate the receptor once bound. (J:86436)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Kitl Mutation:  94 strains or lines available
Notes

This spontaneous mutation arose in a C57BL/6J breeding colony at The Jackson Laboratory.

References
Original:  J:86436 Chandra S, et al., A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotype. Blood. 2003 Nov 15;102(10):3548-55
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory