Mouse Genome Informatics
cx1
    Cybbtm1Din/Y
Tg(SOD1*G93A)dl1Gur/0

B6.Cg-Cybbtm1Din Tg(SOD1*G93A)dl1Gur
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• life span improved relative to mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)

behavior/neurological
• used as a measure of paralysis (J:111782)
• improved relative to mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• reached end stage paralysis later than mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)

nervous system
• improved relative to mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• 50% more anterior horn motor neurons in the anterior horn of the spinal cord than in mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• more myelinated axons in the 5th lumbar anterior roots than in mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)
• more innervated end plates than in mice only carrying Tg(SOD1*G93A)dl1Gur (J:111782)

muscle
• in the fibularis and peroneus longus (J:111782)

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:111782


Mouse Genome Informatics
cx2
    Mir206tm1Eno/Mir206tm1Eno
Tg(SOD1*G93A)dl1Gur/0

involves: 129S/SvEv * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• average death at 244 days compared to 266 days in mice carrying the transgene alone

skeleton

muscle
• at 7.5 months of age

behavior/neurological
• accelerated compared to transgene alone

nervous system
• neuromuscular junctions are disorganized and show imperfect colocalization of nerve and postsynaptic sites


Mouse Genome Informatics
cx3
    Mt3tm1Rpa/Mt3tm1Rpa
Tg(SOD1*G93A)dl1Gur/0

involves: 129S7/SvEvBrd * C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• markedly reduced survival, by about 20%

behavior/neurological
• severe declines in motor function starting around 5-6 months of age

nervous system
• becomes severe after mice begin to display behavioral symptoms


Mouse Genome Informatics
cx4
    Tg(Eno2-Hgf)1Tnak/0
Tg(SOD1*G93A)dl1Gur/0

involves: C57BL/6 * C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• decreased numbers of microglia compared with Tg(SOD1*G93A)dl1Gur mice in facial and hypoglossal nuclei at 8 months of age
• decreased numbers of reactive astrocytes compared with Tg(SOD1*G93A)dl1Gur mice in facial and hypoglossal nuclei at 8 months of age
• less atrophic facial and hypoglossal motoneurons at 8 months of age
• the mean numbers of facial and hypoglossal motoneurons are larger than that of the Tg(SOD1*G93A)dl1Gur mice, and are almost the same as that of wild type mice

immune system
• decreased numbers of microglia compared with Tg(SOD1*G93A)dl1Gur mice in facial and hypoglossal nuclei at 8 months of age

hematopoietic system
• decreased numbers of microglia compared with Tg(SOD1*G93A)dl1Gur mice in facial and hypoglossal nuclei at 8 months of age


Mouse Genome Informatics
cx5
    Tg(SOD1*G93A)dl1Gur/0
Tg(Thy1-SOD1*G93A)T3Hgrd/0

involves: C57BL/6 * CBA * FVB * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
behavior/neurological
• inability to perform hanging wire test

muscle
• first sign of disease is forelimb weakness
• the T3 transgene has marginal effects on disease onset and survival in the G1del mutants; onset is 168 to 197 days with end-stage reached at 210-248 days
• animals show forelimb onset of disease


Mouse Genome Informatics
cx6
    Tg(Prnp-CCS)17Jlel/?
Tg(SOD1*G93A)dl1Gur/?

involves: C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mean survival age is 36 days

growth/size/body
• normal growth for the first five days after birth but weight is significantly reduced relative to controls at 6 days

behavior/neurological
• no neurological phenotype through 7 days of age but tremors appear around day 11
• around day 11
• marked weakness and declining forelimb strength
• shorter stride relative to controls at days 13-15
• maximum stride length at 20 days of age and becoming shorter thereafter

muscle
• spasticity with extensor hindlimb posturing appears around day 11

nervous system
N
• no vacuolation in dorsal root ganglia neurons (J:120361)
• vacuoles found in spinal motor neurons at day seven and throughout the brainstem in certain nerves
• dilated vacuoles in lumbar spinal neurons by day 22


Mouse Genome Informatics
tg7
    Tg(SOD1*G93A)dl1Gur/0
involves: C57BL/6 * C57BL/6J * SJL/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
nervous system
• increased numbers of microglia in facial and hypoglossal nuclei at 8 months of age
• increased numbers of reactive astrocytes in facial and hypoglossal nuclei at 8 months of age
• lower numbers of facial and hypoglossal motoneurons at 8 months of age
• atrophic facial and hypoglossal motoneurons at 8 months of age

immune system
• increased numbers of microglia in facial and hypoglossal nuclei at 8 months of age

hematopoietic system
• increased numbers of microglia in facial and hypoglossal nuclei at 8 months of age


Mouse Genome Informatics
tg8
    Tg(SOD1*G93A)dl1Gur/0
involves: C57BL/6 * CBA * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most symptomatic animals die at <300 days of age

behavior/neurological
• inability to perform hanging wire test

muscle
• first sign of disease is forelimb weakness
• the T3 transgene has marginal effects on disease onset and survival in the G1del mutants; onset is 168 to 197 days with end-stage reached at 210-248 days
• animals show forelimb onset of disease

cellular
• vacuolated mitochondria are sometimes seen in spinal cord of end-stage animals

nervous system


Mouse Genome Informatics
tg9
    Tg(SOD1*G93A)dl1Gur/0
involves: C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mean 266 day

nervous system
• mice develop neurofilament-rich Lewy-body like inclusions in the perikarya and proximal axons of the spinal cord motorneurons at day 180 that increase with age but are not as prominent as in Tg(SOD1*G93A)1Gur mice
• at day 200, both fast and slow axonal transport are impaired in the ventral root compared to in wild-type axons

behavior/neurological
• develops at day 200
• at day 250 (J:106420)

muscle
• develops at day 200

Mouse Models of Human Disease
OMIM IDRef(s)
Amyotrophic Lateral Sclerosis 1; ALS1 105400 J:106420