Tsc1<tm1Hin> Targeted Allele Detail MGI Mouse (MGI:2183146)

Tsc1^tm1Hin
Targeted Allele Detail

Summary

Symbol:	Tsc1^tm1Hin
Name:	TSC complex subunit 1; targeted mutation 1, Okio Hino
MGI ID:	MGI:2183146
Synonyms:	Tsc1^-
Gene:	Tsc1 Location: Chr2:28531240-28581179 bp, + strand Genetic Position: Chr2, 19.38 cM, cytoband B-C1.1
Alliance:	Tsc1^tm1Hin page

Analysis of Tsc1^tm1Hin/Tsc1^tm1Hin embryos

Show the 3 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:70463
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Mutation
description

Allele Type:		Targeted (Null/knockout, Reporter)
Mutations:		Insertion, Intragenic deletion
		Mutation details: Exons 6-8, a region of the gene conserved between mammals and fly and thought to be functionally important, were replaced with an IRES-EGFP-pA-neo cassette via homologous recombination. Splicing of exons 5-9 should result in a frameshift. Northern blot of homozygous mutant embryos detected a mutant transcript deleted for approximately 8 kb of mRNA. (J:70463)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	6 anatomical structure(s)

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:70463 Kobayashi T, et al., A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8762-7
All:	4 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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