Tsc1^tm1Chdl
Targeted Allele Detail

Summary

• Symbol: Tsc1^tm1Chdl
• Name: TSC complex subunit 1; targeted mutation 1, Jeremy P Cheadle
• MGI ID: MGI:3584174
• Synonyms: Tsc1-, Tscl1^-
• Gene: Tsc1 Location: Chr2:28531240-28581179 bp, + strand Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
• Alliance: Tsc1^tm1Chdl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:99796
• Parent Cell Line: E14TG2aIV (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A beta-galactosidase cassette with a floxed neomycin resistance gene was inserted to replace the 3' half of exon 3 and all of exons 7 and 8. RT-PCR demonstrated that this replacement truncated the coding sequence in exon 6 by introducing TAG stop codons in all three reading frames and created a bicistronic transcript where beta-galactosidase was under control of the endogenous regulatory sequences by an IRES. (J:99796)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Tsc1^tm1Chdl

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: 69 strains or lines available

References

• Original: J:99796 Wilson C, et al., A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Hum Mol Genet. 2005 Jul 1;14(13):1839-50
• All: 8 reference(s)