| Primary Identifier | MGI:1856180 | Allele Type | Spontaneous |
| Gene | Spta1 | Inheritance Mode | Recessive |
| Strain of Origin | mixed | Is Recombinase | false |
| Is Wild Type | false |
| description | This allele arose from a mixed SELH stock at the University of British Columbia in 1983. |
| molecularNote | The mutation in the sph-BC mouse was identified as a G-to-T in transversion in the first nucleotide of intron 41. This mutation eliminates exon 41 splice donor site G-GT by changing it to G-TT. This causes a splicing defect that results in the skipping of exon 41 causing the deletion of 54 amino acids as well as a frameshift and a premature stop codon. |
