Primary Identifier | MGI:3720956 | Allele Type | Chemically induced (ENU) |
Gene | Gli3 | Inheritance Mode | Semidominant |
Strain of Origin | BALB/cJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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). |