Gli3tm1Urt
Targeted Allele Detail
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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
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Alliance: |
Gli3tm1Urt page
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Germline Transmission: |
Earliest citation of germline transmission:
J:76496
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Parent Cell Line: |
E14 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted |
Mutation: |
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Insertion
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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)
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View phenotypes and curated references 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
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Carrying any Gli3 Mutation: |
80 strains or lines available
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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) |
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