Primary Identifier | MGI:5906303 | Allele Type | Endonuclease-mediated |
Attribute String | Modified isoform(s) | Gene | Sap130 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This 11 bp deletion beginning at c.1213 in exon 8 is predicted to cause two splice variants resulting in an in-frame deletion from glycine at amino acid 370 through valine at amino acid 405 in splice form a, and a substitution of alanine in place of glycine at amino acid 405 followed by 13 novel amino acids and a premature stop codon in splice form d. |