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Kittm1Bsm
Targeted Allele Detail
Summary
Symbol: Kittm1Bsm
Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 1, Peter Besmer
MGI ID: MGI:2178053
Synonyms: KitY719F-neo
Gene: Kit  Location: Chr5:75735647-75817382 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alliance: Kittm1Bsm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:61141
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsUsing a knock-in strategy, tyrosine 719 was changed to a phenylalanine, Y719F. The mutation was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events. Retention of the neomycin caused a 75% reduction in kit expression. (J:61141)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Kit Mutation:  182 strains or lines available
References
Original:  J:61141 Kissel H, et al., Point mutation in kit receptor tyrosine kinase reveals essential roles for kit signaling in spermatogenesis and oogenesis without affecting other kit responses. EMBO J. 2000 Mar 15;19(6):1312-26
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