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Phenotypes Associated with This Genotype
Genotype
MGI:4418721
Allelic
Composition
nad/nad
Genetic
Background
C(D2)-nad
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phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes usually die by 6 months of age (J:156089)
• homozygotes usually die by 6 months of age (J:156089)

nervous system
• spheroids are found in the grey and white matter of the midbrain, brain stem, and all levels of the spinal cord, with the highest density being found in the medulla, predominantly in the sensory nuclei, and in the dorsal horns and dorsal funiculi of the spinal cord, but speroids are absent from peripheral nerves, distal axon terminals of the skin, optic nerve, retina, dorsal root ganglia, trigeminal ganglia, or cerebral hemispheres rostral to the anterior commissure (J:156089)
• transmission electron microscopy of the nuclei gracilis and cuneatus from the medulla and dorsal funiculi from the cervical spinal cord shows that the spheroids consist of swollen axons, many of which are ruptured, and two morphological types of accumulation were found, with the most prevalent being composed of stacks of membranes, tubulovesicular profiles, and synaptic vesicles, and the more rare type being composed of accumulatioins of degenerate mitochondria, myelin figures, neurofilaments, and membranous dense bodies (J:156089)
• spheroids are found in the grey and white matter of the midbrain, brain stem, and all levels of the spinal cord, with the highest density being found in the medulla, predominantly in the sensory nuclei, and in the dorsal horns and dorsal funiculi of the spinal cord, but speroids are absent from peripheral nerves, distal axon terminals of the skin, optic nerve, retina, dorsal root ganglia, trigeminal ganglia, or cerebral hemispheres rostral to the anterior commissure (J:156089)
• transmission electron microscopy of the nuclei gracilis and cuneatus from the medulla and dorsal funiculi from the cervical spinal cord shows that the spheroids consist of swollen axons, many of which are ruptured, and two morphological types of accumulation were found, with the most prevalent being composed of stacks of membranes, tubulovesicular profiles, and synaptic vesicles, and the more rare type being composed of accumulatioins of degenerate mitochondria, myelin figures, neurofilaments, and membranous dense bodies (J:156089)

behavior/neurological
• by 3 to 4 weeks of age when lifted by the tail homozygotes adduct their hind legs and clasp their hind paws together (J:156089)
• by 3 to 4 weeks of age when lifted by the tail homozygotes adduct their hind legs and clasp their hind paws together (J:156089)
• hindlimb spasticity and ataxia are found as early as 3 weeks of age (J:156089)
• hindlimb spasticity and ataxia are found as early as 3 weeks of age (J:156089)
• by 4 weeks of age homozygotes display a hunched posture, crouched stance, stilted gait, and atrophy of the lumbar and hindlimb musculature (J:156089)
• by 4 weeks of age homozygotes display a hunched posture, crouched stance, stilted gait, and atrophy of the lumbar and hindlimb musculature (J:156089)
• stilted gait by 4 weeks of age (J:156089)
• stilted gait by 4 weeks of age (J:156089)

reproductive system
• a mild defect in spermatogenesis is found in adults (J:156089)
• a mild defect in spermatogenesis is found in adults (J:156089)
• males are unable to breed, likely as a result of hindlimb weakness or paraparesis (J:156089)
• males are unable to breed, likely as a result of hindlimb weakness or paraparesis (J:156089)

growth/size/body
• prior to 3 weeks of age homozygotes are smaller than control littermates and by 4 weeks of age is 10% to 30% lighter than control littermates (J:156089)
• prior to 3 weeks of age homozygotes are smaller than control littermates and by 4 weeks of age is 10% to 30% lighter than control littermates (J:156089)

muscle
• by 4 weeks of age atrophy of the lumbar and hindlimb musculature are found (J:156089)
• by 4 weeks of age atrophy of the lumbar and hindlimb musculature are found (J:156089)

homeostasis/metabolism
N
• complete blood count and clinical biochemistry values show no significant abnormalities (J:156089)
• complete blood count and clinical biochemistry values show no significant abnormalities (J:156089)

immune system
• discrete nodular accumulations of lymphocytes and plasma cells are found in the lungs of approximately 95% of homozgyotes, with the hyperblastic lymphoid nodules more frequently found in sub-pleural sites distant from conducting airways (J:156089)
• discrete nodular accumulations of lymphocytes and plasma cells are found in the lungs of approximately 95% of homozgyotes, with the hyperblastic lymphoid nodules more frequently found in sub-pleural sites distant from conducting airways (J:156089)

integument
• by 4 weeks of age homozygotes have an unthrifty pelage (J:156089)
• by 4 weeks of age homozygotes have an unthrifty pelage (J:156089)

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A 256600 J:156089


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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory