Tsc1^tm1Hin
Targeted Allele Detail

Summary

• Symbol: Tsc1^tm1Hin
• Name: TSC complex subunit 1; targeted mutation 1, Okio Hino
• MGI ID: MGI:2183146
• Synonyms: Tsc1^-
• Gene: Tsc1 Location: Chr2:28531240-28581179 bp, + strand Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
• Alliance: Tsc1^tm1Hin page

Analysis of Tsc1^tm1Hin/Tsc1^tm1Hin embryos

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70463
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	6 anatomical structure(s)

Find Mice (IMSR)

• 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
• Carrying any Tsc1 Mutation: 71 strains or lines available

References

• 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
• All: 4 reference(s)