Gli3^Mos1
Chemically induced Allele Detail

Summary

• Symbol: Gli3^Mos1
• Name: GLI-Kruppel family member GLI3; modifier of Sox10 1
• MGI ID: MGI:3720956
• Gene: Gli3 Location: Chr13:15638308-15904611 bp, + strand Genetic Position: Chr13, 5.43 cM, cytoband A2
• Alliance: Gli3^Mos1 page

Mutation origin

• Strain of Origin: BALB/cJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation was discovered in an ENU mutagenesis screen for alterations in the neurocristopathy phenotype of mice homozygous for a targeted mutation of Sox10. The molecular change is a point mutation in exon 8 substituting adenine for cytosine at nucleotide position 1148 (C1148A), resulting in replacement of tyrosine at codon 350 by a stop codon (Tyr350Ter). (J:136642)
• Inheritance: Semidominant

Expression

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	3 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:136642 Matera I, et al., A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet. 2008 Jul 15;17(14):2118-31
• All: 1 reference(s)