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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smn1tm1Cdid
targeted mutation 1, Christine DiDonato
MGI:4836030
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smn1tm1Cdid/Smn1tm1Cdid involves: 129 * C57BL/6 MGI:5290107
cn2
Mnx1tm4(cre)Tmj/Mnx1+
Smn1tm1Cdid/Smn1tm1Cdid
Tg(SMN2)89Ahmb/0
involves: 129 * 129S1/Sv * C57BL/6 * FVB MGI:5318858
cx3
Smn1tm1Cdid/Smn1tm1Cdid
Tg(SMN2)89Ahmb/0
involves: 129 * C57BL/6 * FVB MGI:5318856
cx4
Smn1tm1Cdid/Smn1tm1.1Cdid
Tg(SMN2)89Ahmb/0
involves: 129 * C57BL/6 * FVB MGI:5318857


Genotype
MGI:5290107
hm1
Allelic
Composition
Smn1tm1Cdid/Smn1tm1Cdid
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• embryos are developmentally delayed at E9.5 (J:176267)
• embryos are developmentally delayed at E9.5 (J:176267)

mortality/aging
• die between E9.5 and E12.5 (J:176267)
• die between E9.5 and E12.5 (J:176267)




Genotype
MGI:5318858
cn2
Allelic
Composition
Mnx1tm4(cre)Tmj/Mnx1+
Smn1tm1Cdid/Smn1tm1Cdid
Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * 129S1/Sv * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mnx1tm4(cre)Tmj mutation (2 available); any Mnx1 mutation (9 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (56 available)
Tg(SMN2)89Ahmb mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median survival of 12 days (J:183080)
• median survival of 12 days (J:183080)

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

cardiovascular system
• by P9 (J:183080)
• by P9 (J:183080)
• end-stage mice display skipped or dropped beats (J:183080)
• end-stage mice display skipped or dropped beats (J:183080)
• at P9-P11 (J:183080)
• at P9-P11 (J:183080)
• at P9-P11 (J:183080)
• at P9-P11 (J:183080)

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

growth/size/body

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




Genotype
MGI:5318856
cx3
Allelic
Composition
Smn1tm1Cdid/Smn1tm1Cdid
Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (56 available)
Tg(SMN2)89Ahmb mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median survival is 7 days (J:183080)
• median survival is 7 days (J:183080)

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 (J:183080)
• however, innervation of the endplates in the triangularis sterni muscle is similar to controls (J:183080)
• 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 (J:183080)
• however, innervation of the endplates in the triangularis sterni muscle is similar to controls (J:183080)
• increase in intercostal muscle homogeneous motor endplates and decrease in the number of endplates containing secondary structure (J:183080)
• however, endplates in the triangularis sterni muscle are similar to controls (J:183080)
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord (J:183080)
• increase in intercostal muscle homogeneous motor endplates and decrease in the number of endplates containing secondary structure (J:183080)
• however, endplates in the triangularis sterni muscle are similar to controls (J:183080)
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord (J:183080)
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord (J:183080)
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords (J:183080)
• decrease in the number of glutamatergic excitatory synapses at P5 in the L2-L5 region of the spinal cord (J:183080)
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords (J:183080)
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords (J:183080)
• significant loss in average MNs per ventral horn is seen in cervical, thoracic, and lumbar spinal cords (J:183080)
• signs of neurodegeneration in the intercostal muscle (J:183080)
• signs of neurodegeneration in the intercostal muscle (J:183080)
• 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 (J:183080)
• high frequency of postsynaptic potentials in cultured motor neurons (J:183080)
• 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 (J:183080)
• high frequency of postsynaptic potentials in cultured motor neurons (J:183080)

cardiovascular system
• by P3 and declines over time (J:183080)
• by P3 and declines over time (J:183080)
• at P3-P7 (J:183080)
• at P3-P7 (J:183080)
• at P3-P7 (J:183080)
• at P3-P7 (J:183080)
• at P3-P7 (J:183080)
• at P3-P7 (J:183080)

behavior/neurological
• decreased motor function (J:183080)
• decreased motor function (J:183080)
• never develop the ability to right when placed on the back (J:183080)
• never develop the ability to right when placed on the back (J:183080)
• near complete paralysis by P5 (J:183080)
• near complete paralysis by P5 (J:183080)

growth/size/body
• at P2 or later (J:183080)
• at P2 or later (J:183080)

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




Genotype
MGI:5318857
cx4
Allelic
Composition
Smn1tm1Cdid/Smn1tm1.1Cdid
Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1.1Cdid mutation (0 available); any Smn1 mutation (56 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (56 available)
Tg(SMN2)89Ahmb mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable and indistinguishable from control littermates (J:183080)
• viable and indistinguishable from control littermates (J:183080)





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