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Kittm3.1Bsm
Targeted Allele Detail
Summary
Symbol: Kittm3.1Bsm
Name: KIT proto-oncogene receptor tyrosine kinase; targeted mutation 3.1, Peter Besmer
MGI ID: MGI:3044953
Synonyms: KitY567F
Gene: Kit  Location: Chr5:75735647-75817382 bp, + strand  Genetic Position: Chr5, 39.55 cM
Alliance: Kittm3.1Bsm page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:90485
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Nucleotide substitutions
 
Mutation detailsCre-mediated recombination removed the floxed neo in Kittm3Bsm, leaving a single loxP site in intron 9 and the tyrosine 567 to phenylalanine mutation. Flow cytometry indicated that receptor levels were reduced to 50-60% of normal levels, and Rnase protection assay showed that transcripts are reduced to 50-60% of normal levels, putatively indicating that the remaining lox site and flanking sequences in intron 9 of the mutant affects RNA transcription and/or splicing. (J:90485)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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:90485 Agosti V, et al., Critical Role for Kit-mediated Src Kinase But Not PI 3-Kinase Signaling in Pro T and Pro B Cell Development. J Exp Med. 2004 Mar 15;199(6):867-78
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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory