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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 (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• embryos are developmentally delayed at E9.5

mortality/aging




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 (18 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (60 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

nervous system
N
• neuromuscular junctions are similar to controls in the intercostal and triangularis sterni muscles
• 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
• lateral instability of the hind limbs
• significantly improved righting response
• early in life
• outgrow this passive behavior after P6

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 (60 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

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/body
• at P2 or later

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 (60 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (60 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





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory