Mouse Genome Informatics
hm
    Sod2tm1Cje/Sod2tm1Cje
involves: C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die between 3 and 13 days of age
• treatment with Manganese 5, 10 ,15, 20-tetrakis (4-benzoic acid) porpryrin (MnTBAP, a superoxide dismutase mimetic that does not cross the blood-brain barrier) increases survival time to a mean life span of 16.4 days compared to 8.3 days without treatment

cardiovascular system
• not detected in mice treated with MnTBAP

nervous system
• 9 of 16 mice older than 12 days of age display focal spongiform changes
• vacuoles are most commonly seen in the reticulotegmental nucleus of the pons, the superior and medioventral periolivary nuclei, and in regions of the motor nucleus of cranial nerves V and VII
• mice older than 12 days of age display symmetric spongiform changes in large areas of the cerebral cortex, primarily in the mid to lower layers of the grey matter and the immediate subcortical white matter
• vacuoles are mostly present in the neuropil and occasionally in the neuronal perikaryon
• 9 of 16 mice older than 12 days of age display focal spongiform changes
• no changes in brain morphology are seen in untreated mice before 10 days of age
• many of the vacuoles are surrounded by thin myelin lamellae
• cross-sectional area is smaller; however, the ultrastructure appears normal in 20 to 21 day old MnTBAP treated mice
• in MnTBAP treated mice

behavior/neurological
• in MnTBAP treated mice
• in MnTBAP treated mice intermittent head tremors develop after P12
• mice treated with MnTBAP develop progressive ataxia starting in the hindlimbs at about P12 and eventually spreading to the frontlimbs
• older mice display a wide-based gait, sway from side to side, and frequently fall with falls sometimes resulting in multiple rolls
• at about P12 MnTBAP treated mice develop ataxia in the hindlimbs with alternating extensor dystonic-like posturing of the hindlimbs and pivoting on the extended limb

vision/eye
• cross-sectional area is smaller; however, the ultrastructure appears normal in 20 to 21 day old MnTBAP treated mice
• in 20 to 21 day old MnTBAP treated mice total retinal thickness, peripheral retinal thickness, and thickness of the combined nerve fiber, ganglion cell, and inner plexiform layers are reduced
• unlike wild-type mice total retinal thickness does not increase between 9-10 and 20-21 days of age
• abnormal mitochondria are more common at 16 and 20-21 days of age in MnTBAP treated mice compared to controls
• mitochondrial abnormalities include foci of swelling, matrix pallor, and disorganization of the cristae
• thinner at 20-21 days of age in MnTBAP treated mice
• the central and overall photoreceptor layer are thinner at 9-10 and 20-21 days of age, respectively, in MnTBAP treated mice

liver/biliary system
• ipid accumulation is decreased with MnTBAP treatment

growth/size
• weight gain is improved with MnTBAP treatment

muscle
• not detected in mice treated with MnTBAP

pigmentation
• abnormal mitochondria are more common at 16 and 20-21 days of age in MnTBAP treated mice compared to controls
• mitochondrial abnormalities include foci of swelling, matrix pallor, and disorganization of the cristae

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:45913
Canavan Disease 271900 J:45913
Leigh Syndrome; LS 256000 J:45913