About   Help   FAQ
KitW-40J
Spontaneous Allele Detail
Nomenclature
Symbol: KitW-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
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsDirect 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
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  149 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)

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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/23/2021
MGI 6.17
The Jackson Laboratory