Primary Identifier | MGI:5432126 | Allele Type | Chemically induced (ENU) |
Gene | Sppl2a | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6JAnu | Is Recombinase | false |
Is Wild Type | false | Project Collection | APF ENU Mutagenesis |
molecularNote | An ENU induced mutation at position 2 of intron 7 (c.842+2T>A GRCm39:chr2:126762236A>T) changes exon/intron 7 splice donor site C-GT to C-GA, leading to skipping of exon 7. Splicing of exon 8 to exon 6 results in a frame shift and premature stop codon that deleted most of the normal protein including 7 of the 9 transmembrane domains as well as the protease active site. |