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Kittm1Hntr
Targeted Allele Detail
Summary
Symbol: Kittm1Hntr
Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 1, Tony Hunter
MGI ID: MGI:2181624
Synonyms: F, Y719F
Gene: Kit  Location: Chr5:75735647-75817382 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alliance: Kittm1Hntr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:60192
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Nucleotide substitutions
 
Mutation detailsAn engineered point mutation in codon 719 resulted in a tyrosine to phenylalanine substitution (Y719F). Western blot analysis showed the level of mutant protein in homozygous mutant mice to be similar to that of the wild-type protein in wild-type mice. PI 3'-kinase activity was determined to be reduced by approximately 90% via assays of the PI 3'-kinase dependent activation of Akt. (J:60192)
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
Notes
This ES cell line contained a cre recombinase gene under the control of the protamine-1 promoter, which is active in male haploid germ cells.
References
Original:  J:60192 Blume-Jensen P, et al., Kit/stem cell factor receptor-induced activation of phosphatidylinositol 3'-kinase is essential for male fertility. Nat Genet. 2000 Feb;24(2):157-62
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory