Primary Identifier | MGI:6490519 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Tbc1d24 |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated a CT to TG change at position 533-534 (c.533C>T, c.534T>G) resulting in a serine to leucine substitution at amino acid 178 (p.Ser178Leu). This is a pathogenic variant seen in patients with autosomal dominant nonsyndromic deafness 65. |