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| Nomenclature |
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Symbol:
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Tsc1tm1Hin
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Name:
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tuberous sclerosis 1;
targeted mutation 1, Okio Hino
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MGI ID: |
MGI:2183146 |
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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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Analysis of Tsc1tm1Hin/Tsc1tm1Hin embryos
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:70463
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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 (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 6-8, a region of the gene conserved between mammals and fly and thought to be functionally important, were replaced with an IRES-EGFP-pA-neo cassette via homologous recombination. Splicing of exons 5-9 should result in a frameshift. Northern blot of homozygous mutant embryos detected a mutant transcript deleted for approximately 8 kb of mRNA. (J:70463)
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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 Tsc1 Mutation:
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28 strains or lines available |
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| References |
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Original: |
J:70463
Kobayashi T et al.,
"A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice."
Proc Natl Acad Sci U S A 2001 Jul 17;98(15):8762-7
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All: |
1 reference(s)
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Analysis Tools
