Mouse Genome Informatics
hm1
    Smn1tm1Cdid/Smn1tm1Cdid
involves: 129 * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
embryogenesis
• embryos are developmentally delayed at E9.5

mortality/aging


Mouse Genome Informatics
cn2
    Mnx1tm4(cre)Tmj/Mnx1+
Smn1tm1Cdid/Smn1tm1Cdid
Tg(SMN2)89Ahmb/0

involves: 129 * 129S1/Sv * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• median survival of 12 days

nervous system
N
• neuromuscular junctions are similar to controls in the intercostal and triangularis sterni muscles (J:183080)
• decrease in cardiac autonomic innervation
• in L3-L5 spinal cord sections but not in the cervical or thoracic regions

cardiovascular system
• end-stage mice display skipped or dropped beats
• at P9-P11
• at P9-P11

behavior/neurological
N
• ambulatory throughout life (J:183080)
• lateral instability of the hind limbs
• significantly improved righting response
• early in life
• outgrow this passive behavior after P6

growth/size

Mouse Models of Human Disease
OMIM IDRef(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:183080


Mouse Genome Informatics
cx3
    Smn1tm1Cdid/Smn1tm1Cdid
Tg(SMN2)89Ahmb/0

involves: 129 * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• median survival is 7 days

nervous system
• significant decrease in the number of fully innervated motor endplates and increase in the number of partially innervated and denervated endplates in the intercostal muscle
• however, innervation of the endplates in the triangularis sterni muscle is similar to controls
• increase in intercostal muscle homogeneous motor endplates and decrease in the number of endplates containing secondary structure
• however, endplates in the triangularis sterni muscle are similar to controls
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords
• signs of neurodegeneration in the intercostal muscle
• threshold voltage in motor neurons is significantly lower and amplitude of the persistent inward current is significantly larger indicating increased excitability in cultured motor neurons
• high frequency of postsynaptic potentials in cultured motor neurons

cardiovascular system
• by P3 and declines over time

behavior/neurological
• never develop the ability to right when placed on the back
• near complete paralysis by P5

growth/size
• at P2 or later

Mouse Models of Human Disease
OMIM IDRef(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:183080


Mouse Genome Informatics
cx4
    Smn1tm1Cdid/Smn1tm1.1Cdid
Tg(SMN2)89Ahmb/0

involves: 129 * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
normal phenotype
• viable and indistinguishable from control littermates