Primary Identifier | MGI:7469825 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Tbl1xr1 |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated an A to G (c.1337A>G) change resulting in a tyrosine to cysteine substitution at amino acid 446 (p.Y446C) in exon 14. This is a mutation reported as the genetic cause of Pierpont Syndrome. |