Kitl^Sl-18R
Spontaneous Allele Detail

Summary

• Symbol: Kitl^Sl-18R
• Name: kit ligand; steel 18 Oak Ridge
• MGI ID: MGI:2652945
• Gene: Kitl Location: Chr10:99851492-99936278 bp, + strand Genetic Position: Chr10, 51.4 cM
• Alliance: Kitl^Sl-18R page

Mutation origin

• Strain of Origin: Ednrb^S-12ThW

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Sequence analysis revealed a C-to-T transition at coding coordinate 211 resulting in a nonsense codon in place of arginine 46 in exon 4 (p.R46* in mature protein or p.R71* in pre-protein). A severely truncated protein product is expected to be expressed from this allele. (J:82263)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Kitl Mutation: 92 strains or lines available

Notes

Publication J:82263 incorrectly states the affected amino-acid as at position 47. Comparing with the coordinates of the N31Y32 deletion in Kitl^Sl-5R also described there, this is not correct, since based on the nucleotide cDNA coordinates given in the paper, the two mutations are described as 15 codons apart, not 16. Also, SW:P20826 locates the arginine for this allele at position 71 (or 46 in mature protein) and the asparagine and tyrosine in Kitl^Sl-5R residues at 56-57 (31-32 mature), so, 15 amino-acids apart.

References

• Original: J:82263 Rajaraman S, et al., Effects of spontaneous Kitl(Steel) mutations on survival and red blood cells of mice. Mamm Genome. 2003 Mar;14(3):168-74
• All: 1 reference(s)