Primary Identifier | MGI:3815474 | Allele Type | Targeted |
Attribute String | Conditional ready, No functional change | Gene | Musk |
Transmission | Germline | Strain of Origin | Not Specified |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The exon encoding the SDV-XI tyrosine kinase domain was replaced with one in which a G->A transition at position 2365 (c.2365G>A) results in the amino acid substitution of methionine for valine at position 789 (V789M). This mutation is homologous to the V790M mutation identified in human patients with congenital myasthenic syndrome. The modified exon along with an upstream neo cassette are flanked by loxP sites. |