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Allele : Nadk2<nmf421> NAD kinase 2, mitochondrial; neuroscience mutagenesis facility, 421

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.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

2 Publication categories