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Gli3tm1Urt
Targeted Allele Detail
Summary
Symbol: Gli3tm1Urt
Name: GLI-Kruppel family member GLI3; targeted mutation 1, Ulrich Ruther
MGI ID: MGI:2182576
Synonyms: Gli3delta699
Gene: Gli3  Location: Chr13:15638308-15904611 bp, + strand  Genetic Position: Chr13, 5.43 cM, cytoband A2
Alliance: Gli3tm1Urt page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:76496
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsThe gene was disrupted by targeting of a PGK-neo cassette to exon 1 via homologous recombination. RT-PCR analysis and sequencing of the product revealed a mutant transcript with abnormal splicing at the 3' end of the thymidine kinase negative selection marker resulting in a frameshift and premature translation termination of Gli3. The mutant protein truncates at amino acid 699 C-terminal to the zinc-finger domain with 21 additional mutant amino acids before the stop codon, similar to the mutation found in human Pallister-Hall syndrome. (J:76496)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 41 assay results
In Structures Affected by this Mutation: 20 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 Gli3 Mutation:  80 strains or lines available
References
Original:  J:76496 Bose J, et al., Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet. 2002 May 1;11(9):1129-35
All:  35 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
03/19/2024
MGI 6.23
The Jackson Laboratory