Primary Identifier | MGI:6825801 | Allele Type | Chemically induced (ENU) |
Attribute String | Hypomorph | Gene | Nadk2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The phenotypic deviant was identified by by hindlimb wasting, gait abnormalities, and shakiness following multidose ethylnitrosourea (ENU) treatments. Sequence analysis indicates that this recessive mutation is a nucleotide substitution resulting in the replacement of serine at codon 330 with proline (S330P, c.T988C; transcript Nadk2-205) in exon 11. The mutation is near the C-terminal end of the catalytic domain and results in a 65.6 +/- 10% reduction of NADK2 protein expression. |