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| Nomenclature |
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Symbol:
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Tsc1tm1.1Djk
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Name:
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tuberous sclerosis 1;
targeted mutation 1.1, David J Kwiatkowski
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MGI ID: |
MGI:2183900 |
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Synonyms: |
Tsc1- |
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Gene:
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Tsc1
Location:
Chr2:28641228-28691167 bp, + strand
Genetic Position: Chr2,
19.38 cM, cytoband B-C1.1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:75243
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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 (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: A floxed neo-TK cassette was inserted into the intron preceding exon 17 and a third loxP site was introduced downstream of exon 18 by homologous recombination. Transient expression of cre recombinase in correctly targeted ES cells excised the entire region contained within the 3 loxP sites resulting in a frame shift and premature translation termination. Deletion of exons 17 and 18 in ES cells was confirmed by PCR analysis. Homozygous mutant embryos were identified by PCR genotyping but could not be observed past E13.5. Western blot analysis demonstrated the absence of protein expression in mouse embryonic fibrobasts (MEFs) derived from E10-E10.5 homozygous mutants embryos. (J:75243)
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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:75243
Kwiatkowski DJ et al.,
"A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells."
Hum Mol Genet 2002 Mar 1;11(5):525-34
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All: |
10 reference(s)
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Analysis Tools
