| Primary Identifier | MGI:3575541 | Allele Type | Spontaneous |
| Gene | Ppp1r13l | Inheritance Mode | Not Specified |
| Strain of Origin | C57BL/6 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | Sequence analysis revealed a 14 bp deletion in the genomic DNA. This deletion removes a splice donor site, resulting in a transcript for this allele that is 92 bp longer than that of the wild-type allele due to the retention of intronic sequence between exons 8 and 9. The retained sequence includes the splice donor site of exon 8. The inserted sequence introduces a premature stop codon that results in the loss of a substantial portion of the N-terminal portion of the open reading frame of the encoded protein. Loss of protein product was confirmed by Western blot analysis. |
