Kit^W-40J
Spontaneous Allele Detail

Summary

• Symbol: Kit^W-40J
• Name: KIT proto-oncogene receptor tyrosine kinase; dominant spotting 40 Jackson
• MGI ID: MGI:1856243
• Gene: Kit Location: Chr5:75735647-75817382 bp, + strand Genetic Position: Chr5, 39.55 cM
• Alliance: Kit^W-40J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Direct sequence of this allele and comparison with normal c-kit indicated a nonsynonymous coding mutation of a 5-bp deletion in N-term extracellular domain that result in a frameshift yielding two nonsynonymous substitutions (R186C and A188S) and an in-frame, premature STOP at position 190. (J:151778)
• Inheritance: Semidominant

Expression

In Structures Affected by this Mutation:

5 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 Kit Mutation: 179 strains or lines available

References

• Original: J:6571 Geissler EN, et al., Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles. Genetics. 1981 Feb;97(2):337-61
• All: 2 reference(s)