Tsc2tm2.2Djk
Targeted Allele Detail
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Symbol: |
Tsc2tm2.2Djk |
Name: |
TSC complex subunit 2; targeted mutation 2.2, David J Kwiatkowski |
MGI ID: |
MGI:4354601 |
Synonyms: |
Tsc2del3 |
Gene: |
Tsc2 Location: Chr17:24814790-24851604 bp, - strand Genetic Position: Chr17, 12.41 cM
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Alliance: |
Tsc2tm2.2Djk page
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Germline Transmission: |
Earliest citation of germline transmission:
J:149326
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Parent Cell Line: |
J1 (ES Cell)
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Strain of Origin: |
129S4/SvJae
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Allele Type: |
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Targeted (Hypomorph) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: Exons 3 of Tsc2 which consists of 111 bp, encoding 37 amino acids near the N terminus of the protein (note that in some schemes this is counted as exon 4; however in accordance with human TSC2 gene, always denoted this as exon 3, labeling a 5' untranslated exon as 1a) was removed from the Tsc2tm2Djk locus by crossing with mice expressing Cre recombinase in the germline. This allele is hypomorphic allele.
(J:149326)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Tsc2 Mutation: |
77 strains or lines available
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Original: |
J:149326 Pollizzi K, et al., A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet. 2009 Jul 1;18(13):2378-87 |
All: |
4 reference(s) |
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