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Tsc1tm1Djk
Targeted Allele Detail
Nomenclature
Symbol: Tsc1tm1Djk
Name: tuberous sclerosis 1; targeted mutation 1, David J Kwiatkowski
MGI ID: MGI:2656240
Synonyms: Tsc1c, Tsc1fl, Tsc1flox, Tsc1L, Tsc1lox
Gene: Tsc1  Location: Chr2:28641228-28691167 bp, + strand  Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
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.

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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tsc1 Mutation:  47 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:  141 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/19/2017
MGI 6.10
The Jackson Laboratory