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| Nomenclature |
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Symbol:
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Gli3tm1Urt
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Name:
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GLI-Kruppel family member GLI3;
targeted mutation 1, Ulrich Ruther
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MGI ID: |
MGI:2182576 |
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Synonyms: |
Gli3delta699 |
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Gene:
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Gli3
Location:
Chr13:15463235-15730026 bp, + strand
Genetic Position: Chr13,
5.43 cM, cytoband A2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:76496
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutation: | |
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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Gli3 Mutation:
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12 strains or lines available |
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| References |
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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
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All: |
14 reference(s)
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Analysis Tools
