Primary Identifier | MGI:6490517 | 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 G to T change a position 208 (c.208G>T) resulting in an aspartate to tyrosine substitution at amino acid 70 (p.Asp70Tyr). This is a pathogenic variant seen in patients with autosomal recessive nonsyndromic deafness 86. |