Gli3^tm1Urt
Targeted Allele Detail

Summary

• Symbol: Gli3^tm1Urt
• Name: GLI-Kruppel family member GLI3; targeted mutation 1, Ulrich Ruther
• MGI ID: MGI:2182576
• Synonyms: Gli3^delta699
• Gene: Gli3 Location: Chr13:15638308-15904611 bp, + strand Genetic Position: Chr13, 5.43 cM, cytoband A2
• Alliance: Gli3^tm1Urt 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 details: The 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)

Disease models

Expression

In Mice Carrying this Mutation:	41 assay results
In Structures Affected by this Mutation:	18 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: 81 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)