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| Nomenclature |
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Symbol:
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Kittm2Bsm
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Name:
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kit oncogene;
targeted mutation 2, Peter Besmer
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MGI ID: |
MGI:2663995 |
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Synonyms: |
KitV558delta |
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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:83616
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Parent Cell Line:
| GSI-1 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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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. This point mutation mimics a valine 559 deletion found in a case of human somatic gastrointestinal stromal tumor (GIST). The floxed neo cassette was subsequently removed by mating mutant animals to cre deleter strain TgN(EIIa-cre)C5379Lmgd. The integrity of the V558 deletion was confirmed by DNA sequence analysis. (J:83616)
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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:83616
Sommer G et al.,
"Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase."
Proc Natl Acad Sci U S A 2003 May 27;100(11):6706-11
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All: |
4 reference(s)
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Analysis Tools
