Primary Identifier | MGI:2671733 | Allele Type | Chemically induced (ENU) |
Gene | Aspa | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false | Project Collection | Mutagenesis for Dev. Defects |
molecularNote | Exon 4 contains a point mutation of C to T at position 577 that results in an amino acid substitution of a stop codon for glutamine at position 193 (Q193X). The absence of protein expression was confirmed by western blot on brain extracts. |