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| Nomenclature |
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Symbol:
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Tsc2tm2.2Djk
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Name:
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tuberous sclerosis 2;
targeted mutation 2.2, David J Kwiatkowski
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MGI ID: |
MGI:4354601 |
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Synonyms: |
Tsc2del3 |
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Gene:
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Tsc2
Location:
Chr17:24595937-24632629 bp, - strand
Genetic Position: Chr17,
12.41 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:149326
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutations: | |
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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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tsc2 Mutation:
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2 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
