Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | Notes | References

Symbol: Tsc1tm1Djk Name: TSC complex subunit 1; targeted mutation 1, David J Kwiatkowski MGI ID: MGI:2656240 Synonyms: Tsc1c, Tsc1fl, Tsc1flox, Tsc1L, Tsc1lox Gene: Tsc1  Location: Chr2:28531240-28581179 bp, + strand  Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1 Alliance: Tsc1tm1Djk page

Brains of Tsc1tm1Djk/Tsc1tm1Djk Gt(ROSA)26Sortm1Sho/Gt(ROSA)26Sor+ mice injected with an adenovirus expressing cre recombinase show ventricular region abnormalities Show the 5 phenotype image(s) involving this allele.

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	73 assay results 4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	46 anatomical structure(s)

List all tumor models in MMHCdb carrying Tsc1tm1Djk

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:	69 strains or lines available

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:	328 reference(s)