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KitW-2Btlr
Chemically induced Allele Detail
Summary
Symbol: KitW-2Btlr
Name: KIT proto-oncogene receptor tyrosine kinase; viable dominant spotting 2 Bruce Beutler
MGI ID: MGI:3779022
Synonyms: Kit787F, Kitm2Btlr, Pretty2
Gene: Kit  Location: Chr5:75735647-75817382 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alliance: KitW-2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe Pretty2 mutation corresponds to an A-to-T transversion at nucleotide position 2388 of the gene (Genbank: NM_021099), in the 17th of 21 total exons, resulting in replacement of isoleucine by phenylalanine at amino acid position 787 (I787F) in the C-lobe of the protein, immediately preceding the kinase catalytic loop. (J:133613)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
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 Kit Mutation:  182 strains or lines available
References
Original:  J:133613 Du X, et al., Pretty2 is an allele of Kit and displays pigmentation defects. MGI Direct Data Submission. 2008;
All:  4 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
11/12/2024
MGI 6.24
The Jackson Laboratory