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

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

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

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)

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 Composition Genetic Background Cell Line(s) Loading... hm1 Tsc1tm1Chdl/Tsc1tm1Chdl B6NHsd.129P2-Tsc1tm1Chdl   hm2 Tsc1tm1Chdl/Tsc1tm1Chdl involves: 129P2/OlaHsd * C57BL/6JOlaHsd   ht3  Disease Model Tsc1tm1Chdl/Tsc1+ involves: 129P2/OlaHsd * Balb/cOlaHsd * C57BL/6JOlaHsd   ht4  Disease Model Tsc1tm1Chdl/Tsc1+ involves: 129P2/OlaHsd * C3H/HeNHsd * C57BL/6JOlaHsd   ht5  Disease Model Tsc1tm1Chdl/Tsc1+ involves: 129P2/OlaHsd * C57BL/6JOlaHsd   cx6 Rhebtm1.1Yelg/Rheb+ Tsc1tm1Chdl/Tsc1tm1Chdl B6.129P2-Tsc1tm1Chdl Rhebtm1.1Yelg
Phenotypes:	Affected Systems hm1 hm2 ht3 ht4 ht5 cx6 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).

Key:	√ disease model   expected model not found
Models:	Human Diseases ht3 ht4 ht5 tuberous sclerosis IDs tuberous sclerosis       DOID:13515 ICD10CM:Q85.1 ICD9CM:759.5 MESH:D014402 NCI:C3424 OMIM:PS191100 UMLS_CUI:C0041341 Close √ √ √

In Structures Affected by this Mutation:

4 anatomical structure(s)

List all tumor models in MMHCdb carrying Tsc1tm1Chdl

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

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)