Mouse Genome Informatics
phenotype observed in females
phenotype observed in males
N normal phenotype
• smaller size is identifiable at 2.5 weeks of age

nervous system
• dystrophic axons are present in large numbers at all levels of the spinal cord in all white matter funiculi and in central grey matter and are commonly found throughout the brain stem, including nucleus gracilis, cerebellar peduncles and deep cerebellar nuclei, red nucleus, and substantia nigra and in the optic nerve and tract, corpus callosum, rostral commissure and fornix of the forebrain

• reduced ability to stand on either fore or hind limbs when tested for motor deficits
• at 3 months of age, have a humped back
• progressively develop a shaky gait and tend to move the distal hind limbs only below the hock
• at 3 months of age, the hip joint exhibits little flexion and forelimbs tend to splay out to the side
• hind limbs are paralyzed by 8 months of age and are dragged along behind, however never exhibit spasticity
• only rarely do mutants breed

• exhibit a dull hair coat by 2.5 weeks of age

Mouse Models of Human Disease
Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A 256600 J:11718