Mouse Genome Informatics
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygotes die by 4 months of age (J:153195)
• mice die before 18 weeks of age (J:155328)

• at 7 to 8 weeks, all mice exhibit abnormal movement unlike wild-type mice
• motor impairments worsen with age
• homozygotes have a progressive impairment of motor function
• severe prior to 10 weeks of age
• at 7 weeks, mice exhibit impaired performance in a hanging grip test compared with wild-type mice
• after 10 weeks, mice cannot hold their body on an inverted plate unlike wild-type mice
• at 12 weeks, mice drag their hindlimbs unlike wild-type mice

nervous system
• homozygotes show accumulation of spheroids, axonal swelling, and ubiquitin-positive granular deposits in brain stem gracile nuclei, cerebellar white mater, spinal cord and peripheral nerves (J:153195)
• at 16 weeks, mice exhibit spheroids in gracile and cuneate nuclei of the brainstem, cerebral cortex, thalamus, substantia nigra, trigeminal motor nucleus, cerebellar dentate nucleus, lumbar spinal anterior horn, lumbar corticospinal tract, and lumbar posterior funiculus unlike in wild-type mice (J:155328)
• astrocytes taken from 6 to 8 week old homozygotes and cultured for 14 to 16 days have diminished ATP-stimulated calcium signalling with capacitative calcium entry in these astrocytes reduced by 43% compared with controls

• in the hindlimb

immune system

• mice become emaciated as they age

hematopoietic system

Mouse Models of Human Disease
Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A 256600 J:155328