nad Gene Detail

Summary

• Symbol
  nad
• Name
  spontaneous neuroaxonal dystrophy

• Feature Type
  heritable phenotypic marker
• IDs
  MGI:4418710
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome Unknown

Human Diseases

• Diseases
  1 with nad mouse models

Human Disease

Mouse Models

neurodegeneration with brain iron accumulation 2a

IDs

neurodegeneration with brain iron accumulation 2a      

DOID:0110735
ICD10CM:G23.0
OMIM:256600

View 1 model

Mouse Models

Human Disease Modeled: neurodegeneration with brain iron accumulation 2a

Allelic Composition	Genetic Background	Reference	Phenotypes
nad/nad	C(D2)-nad	J:156089	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  15 phenotypes from 1 allele in 1 genetic background
  1 phenotype reference
  

• All Mutations and Alleles
  1
• Spontaneous
  1
• Find Mice (IMSR)
  0 strains or lines available

As early as 3 weeks of age homozygotes show signs of sensory axonopathy (clasping reflex and ataxia) which progress to paraparesis and morbidity by 6 months of age. Large swollen axons (spheroids) are noted in the brainstem and spinal cord. Males fail tobreed, likely due to hindlimb muscle atrophy.

References

• Summaries
  All 1

  Diseases 1

  Phenotypes 1
• Earliest
  J:156089 Bouley DM, et al., Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy. J Comp Pathol. 2006 Feb-Apr;134(2-3):161-70