| Primary Identifier | MGI:6441735 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Dhtkd1 |
| Transmission | Germline | Strain of Origin | 129S6/SvEvTac |
| Is Recombinase | false | Is Wild Type | false |
| description | ES cell: SCR012 |
| molecularNote | A tyrosine to STOP codon at amino acid 486 (p.Y486*) was introduced in exon 8 and part of the intron between exon 8 and exon 9 was replaced with a PGK-neomycin cassette. RT-PCR and Western blot analysis indicates very low mRNA and protein expression, respectively, in homozygotes. The Y486* mutation is equivalent to the Y485* mutation seen in individuals with Charcot-Marie-Tooth disease type 2Q. |
