Nadk2^nmf421
Chemically induced Allele Detail

Summary

• Symbol: Nadk2^nmf421
• Name: NAD kinase 2, mitochondrial; neuroscience mutagenesis facility, 421
• MGI ID: MGI:6825801
• Gene: Nadk2 Location: Chr15:9071340-9110584 bp, + strand Genetic Position: Chr15, 3.82 cM, cytoband A2
• Alliance: Nadk2^nmf421 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: 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. (J:332444)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nadk2 Mutation: 31 strains or lines available

References

• Original: J:332444 Murray GC, et al., Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology. Hum Mol Genet. 2022 Nov 28;31(23):4055-4074
• All: 1 reference(s)