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KitW-42J
Spontaneous Allele Detail
Summary
Symbol: KitW-42J
Name: KIT proto-oncogene receptor tyrosine kinase; dominant spotting 42 Jackson
MGI ID: MGI:1856245
Synonyms: W-42, We
Gene: Kit  Location: Chr5:75735647-75817382 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alliance: KitW-42J page
KitW-42J/Kit+

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsNucleotide sequence analysis of mutant complementary DNAs revealed a G-to-A transition (coding nucleotide 2368 in NM_021099) resulting in a aspartic acid to asparagine mutation at codson 790 (p.D790N). Kit receptor tyrosine kinase activity is affected but not c-kit encoded proteins. (J:10187, J:10528)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 8 assay results
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:  181 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:  10 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
05/28/2024
MGI 6.13
The Jackson Laboratory