| Primary Identifier | MGI:6157844 | Allele Type | Endonuclease-mediated |
| Attribute String | Constitutively active | Gene | Slc12a6 |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology was used to introduce an alanine for threonine substitution at codon 991 (T991A) in exon 22. The T991A mutation has been identified in a patient with severe peripheral neuropathy, abolishes Thr991 phosphorylation, is a gain of function mutation and results in constitutive activity. This line corresponds to line #31. |
