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| Nomenclature |
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Symbol:
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Kittm1Shta
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Name:
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kit oncogene;
targeted mutation 1, Shonzo Hirota
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MGI ID: |
MGI:3773048 |
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Synonyms: |
KIT-Asp818Tyr |
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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:130890
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Parent Cell Line:
| iTL1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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 floxed neo cassette and an exon 17 carrying a nucleotide substitution that results in an amino acid substitution of tyrosine for aspartic acid at position 818 (D818Y) was knocked into the open reading frame. The neo cassette was subsequently removed by germ-line, cre-mediated recombination. (J:130890)
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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:130890
Nakai N et al.,
"A mouse model of a human multiple GIST family with KIT-Asp820Tyr mutation generated by a knock-in strategy."
J Pathol 2008 Feb;214(3):302-11
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All: |
1 reference(s)
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Analysis Tools
