Tg(CMA1-KIT*D816V)11Libl
Transgene Detail
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| Symbol: |
Tg(CMA1-KIT*D816V)11Libl |
| Name: |
transgene insertion 11, Roland Liblau |
| MGI ID: |
MGI:5313458 |
| Synonyms: |
Bchm/Asp816ValcKit No=11, Bchm/D816VKit |
| Transgene: |
Tg(CMA1-KIT*D816V)11Libl Location: unknown
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| Alliance: |
Tg(CMA1-KIT*D816V)11Libl page
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| Transgene Type: |
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Transgenic (Constitutively active, Inserted expressed sequence) |
| Mutation: |
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Insertion
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Mutation details: This transgene comprises 571 bp of upstream flanking sequence, containing the promoter, from the baboon chimase 1, mast cell gene (delta571-bchm) joined to a human KIT proto-oncogene cDNA encoding the S715 variant of the KIT isoform that lacks the GNNK sequence, mutated to replace aspartic acid at amino acid position 816 with valine (D816V), followed by the SV40 late region polyadenylation signal. The D816V mutation, which resides in the catalytic domain of the KIT protein, results in its constitutive phosphorylation and activation. This mutation often is associated with systemic mastocytosis (SM) and some other human hematologic malignancies. The transgene copy number in this line has been estimated as 1-2 by Southern blot analysis. Transgene derived transcripts are detected by RT-PCR analysis in various tissues, notably heart and spleen, and in bone marrow derived mast cells (BMMCs), but not in total bone marrow or in highly purified T or B lymphocytes of transgenic mice.
(J:106826)
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 1 strain available
Cell Lines: 0 lines available
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Mouse lines descended from four transgenic founders, designated lines 2, 8, 11 and 16, were characterized. Their relative transgene copy numbers, based on Southern blot analysis, are Line 11 < Line 2 < Line 8 < Line 16. The line numbers of the animals used for most other analyses are not specified. ( J:106826) |
| Original: |
J:106826 Zappulla JP, et al., Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. J Exp Med. 2005 Dec 19;202(12):1635-41 |
| All: |
1 reference(s) |
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Analysis Tools
