GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:8387379

From GONUTS
Jump to: navigation, search
Citation

Hui, CC and Joyner, AL (1993) A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. Nat. Genet. 3:241-6

Abstract

Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development. Recently, the human GLI3 gene has been proposed to be a candidate gene for GCPS. Here we describe the molecular characterization of extra-toes (Xt), which is a mouse model of GCPS. The Xt heterozygotes show craniofacial defects and a polydactyly phenotype similar to GCPS. We show that a deficiency of Gli3 expression in the XtJ mutant is due to a deletion within the 3' end of the gene. Furthermore, structures affected in the mouse mutant and human syndrome were found to correlate with expression domains of Gli3 in mouse. These results strongly suggest that the deficiency of GLI3 function leads to GCPS.

Links

PubMed Online version:10.1038/ng0393-241

Keywords

Alleles; Animals; Blotting, Southern; DNA/genetics; DNA/isolation & purification; Disease Models, Animal; Embryo, Mammalian/pathology; Facial Bones/abnormalities; Facial Bones/embryology; Gene Deletion; Homozygote; Humans; Introns; Mice; Mice, Inbred C3H; Mice, Mutant Strains; Phenotype; Skull/abnormalities; Skull/embryology; Syndactyly/embryology; Syndactyly/genetics; Syndrome

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:GLI3

acts_upstream_of_or_within

GO:0030326: embryonic limb morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0021915: neural tube development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

  • results_in_development_of:(EMAPA:16974)

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0048598: embryonic morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0048593: camera-type eye morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0048598: embryonic morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

has_participant:(EMAPA:16680)

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0048593: camera-type eye morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

has_participant:(EMAPA:16198)

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0021915: neural tube development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

results_in_development_of:(EMAPA:16974)

Seeded From UniProt

complete

MOUSE:GLI3

acts_upstream_of_or_within

GO:0030326: embryonic limb morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:1856276

P

has_participant:(EMAPA:17459)

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.