| Primary Identifier | MGI:2671731 | Allele Type | Chemically induced (ENU) |
| Gene | Wdr81 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Mutagenesis for Dev. Defects |
| molecularNote | This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Sequencing identified a T to C transition of nucleotide 4046 in exon 4 of Wdr81. This missense mutation results in an amino acid substitution (L1349P) in the major facilitator superfamily (MFS) domain of the protein. Expression of WDR81 protein in the cerebellum and retina is comparable to wild-type. |
