Tsc1^tm1Djk
Targeted Allele Detail

Summary

• Symbol: Tsc1^tm1Djk
• Name: TSC complex subunit 1; targeted mutation 1, David J Kwiatkowski
• MGI ID: MGI:2656240
• Synonyms: Tsc1^c, Tsc1^fl, Tsc1^flox, Tsc1^L, Tsc1^lox
• Gene: Tsc1 Location: Chr2:28531240-28581179 bp, + strand Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
• Alliance: Tsc1^tm1Djk page

Brains of Tsc1^tm1Djk/Tsc1^tm1Djk Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺ mice injected with an adenovirus expressing cre recombinase show ventricular region abnormalities

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:82532
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• 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. (J:75243)

Disease models

Expression

In Mice Carrying this Mutation:	73 assay results 8 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	46 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Tsc1^tm1Djk

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Tsc1 Mutation: 71 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Angiosarcoma/Lymphangiosarcoma J: 231316.

References

• Original: J:82532 Uhlmann EJ, et al., Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol. 2002 Sep;52(3):285-96
• All: 339 reference(s)