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Targeted Allele Detail
Symbol: Gli3tm1Urt
Name: GLI-Kruppel family member GLI3; targeted mutation 1, Ulrich Ruther
MGI ID: MGI:2182576
Synonyms: Gli3delta699
Gene: Gli3  Location: Chr13:15463235-15730026 bp, + strand  Genetic Position: Chr13, 5.43 cM, cytoband A2
Germline Transmission:  Earliest citation of germline transmission: J:76496
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
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)
View phenotypes for all genotypes (concatenated display).
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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:  13 strains or lines available
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:  19 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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