| Primary Identifier | MGI:1857818 | Allele Type | Chemically induced (ENU) |
| Gene | Picalm | Inheritance Mode | Recessive |
| Strain of Origin | BALB/cRl | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | PCR amplification and sequencing of cDNA and genomic DNA products from mutants revealed a T to A transversion in the splice donor site immediately following exon 17 that causes the deletion of that exon in all alternatively spliced forms of the mRNA. For each transcript isoform detected, the absence of exon 17 from the mRNA creates a frameshift in the ORF 3' of the missing exon, thereby allowing the incorporation of a few aberrant codons and a premature stop codon. The largest aberrant mRNA isoform is predicted to encode a protein that is truncated at residue 559. |
