Primary Identifier | MGI:7314213 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Ighmbp2 |
Strain of Origin | FVB/NJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated a GAT to AAC change resulting in a aspartic acid to asparagine substitution at amino acid 564 (D564N) in exon 12. The human equivalent D565N mutation has been identified in spinal muscular atrophy with respiratory distress type I (SMARD1 patients. |