Kitl^Sl-20J
Spontaneous Allele Detail

Summary

• Symbol: Kitl^Sl-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: Kitl^Sl-20J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: Long-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

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: 92 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)