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| Nomenclature |
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Symbol:
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Kittm4.1Bsm
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Name:
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kit oncogene;
targeted mutation 4.1, Peter Besmer
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MGI ID: |
MGI:5442620 |
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Synonyms: |
KitV558delta;T669I |
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Gene:
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Kit
Location:
Chr5:75574916-75656722 bp, + strand
Genetic Position: Chr5,
39.55 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:188434
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Parent Cell Line:
| CJ7 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A single point mutation deleting valine 558 was introduced to exon 11 and a floxed neo cassette was introduced to intron 9 via homologous recombination. A second point mutation was introduced to exon 14 (ACA to ATA) that results in the amino acid substitution of isoleucine for threonine at position 669. These point mutations mimic a valine 559 deletion and a T670I amino acid substitution found in a case of human somatic gastrointestinal stromal tumor (GIST). Cre-mediated recombination removed the neo cassette. (J:188434)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:188434
Bosbach B et al.,
"Imatinib resistance and microcytic erythrocytosis in a KitV558Delta;T669I/+ gatekeeper-mutant mouse model of gastrointestinal stromal tumor."
Proc Natl Acad Sci U S A 2012 Aug 21;109(34):E2276-83
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All: |
1 reference(s)
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Analysis Tools
