Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Gli3Mos1
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:	Gli3Mos1 page

Strain of Origin:

BALB/cJ

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	14 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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:	80 strains or lines available

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)