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Tsc1tm1Chdl
Targeted Allele Detail
Summary
Symbol: Tsc1tm1Chdl
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: Tsc1tm1Chdl 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 detailsA 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)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
Allelic CompositionGenetic BackgroundCell Line(s)
 
involves: 129P2/OlaHsd * C57BL/6JOlaHsd
 
ht3  Disease Model
involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd
 
ht4  Disease Model
involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd
 
ht5  Disease Model
involves: 129P2/OlaHsd * C57BL/6JOlaHsd
 
 
Phenotypes:
Affected Systems
show or hide all annotated terms
           
cardiovascular system
fetal cardiomyocyte vacuoles
cellular
increased embryonic tissue cell apoptosis
embryo
increased embryonic tissue cell apoptosis
decreased embryo size
growth/size/body
decreased embryo size
kidney cyst
decreased fetal size
fetal growth retardation
liver/biliary system
increased hepatic hemangioma incidence
mortality/aging
lethality throughout fetal growth and development, complete penetrance
postnatal lethality, incomplete penetrance
embryonic lethality during organogenesis, complete penetrance
neoplasm
increased hepatic hemangioma incidence
increased renal cystadenoma incidence
increased renal carcinoma incidence
nervous system
exencephaly
renal/urinary system
kidney cyst
increased renal cystadenoma incidence
increased renal carcinoma incidence
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
ht3
ht4
ht5
IDs
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Tsc1tm1Chdl
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: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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory