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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Grm7Tg(SMN2)89Ahmb
transgene insertion 89, Arthur H M Burghes
MGI:2448989
Summary 29 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Olig2tm1(cre)Tmj/Olig2+
Smn1tm1Jme/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129 * 129P2/OlaHsd * FVB/N MGI:5289775
cn2
Olig2tm1(cre)Tmj/Olig2+
Smn1tm1Jme/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
involves: 129 * 129P2/OlaHsd * FVB/N MGI:5289776
cn3
Mnx1tm4(cre)Tmj/Mnx1+
Smn1tm1Cdid/Smn1tm1Cdid
Grm7Tg(SMN2)89Ahmb/0
involves: 129 * 129S1/Sv * C57BL/6 * FVB MGI:5318858
cx4
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
B6.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd MGI:3785817
cx5
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
B6.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd MGI:3785816
cx6
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd/J MGI:3785611
cx7
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb MGI:3785825
cx8
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Tg(SMN2*delta7)4299Ahmb/0
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb MGI:3785824
cx9
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/0
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J MGI:5490996
cx10
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J MGI:3785610
cx11
Smn1tm1Cdid/Smn1tm1.1Cdid
Grm7Tg(SMN2)89Ahmb/0
involves: 129 * C57BL/6 * FVB MGI:5318857
cx12
Smn1tm1Cdid/Smn1tm1Cdid
Grm7Tg(SMN2)89Ahmb/0
involves: 129 * C57BL/6 * FVB MGI:5318856
cx13
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1-SMN2*)16Cll/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5490787
cx14
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/?
involves: 129P2/OlaHsd * C57BL/6J * FVB MGI:2677019
cx15
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Tg(SMN2*A111G)588Ahmb/0
involves: 129P2/OlaHsd * FVB/N MGI:3847437
cx16
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Tg(SMN2*A111G)591Ahmb/0
involves: 129P2/OlaHsd * FVB/N MGI:3847439
cx17
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*A111G)588Ahmb/0
involves: 129P2/OlaHsd * FVB/N MGI:3847440
cx18
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*A111G)591Ahmb/0
involves: 129P2/OlaHsd * FVB/N MGI:3847441
cx19
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*)1951Ahmb/0
involves: 129P2/OlaHsd * FVB/N MGI:3847444
cx20
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:4835060
cx21
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:4835061
cx22
Smn1tm1Msd/Smn1tm1Msd
Tg(ACTA1-SMN)63Ahmb/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:3775247
cx23
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1*A2G)2023Ahmb/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:3775243
cx24
Smn1tm1Msd/Smn1tm1Msd
Tg(ACTA1-SMN)63Ahmb/Tg(ACTA1-SMN)63Ahmb
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:3775248
cx25
Smn1tm1Msd/Smn1tm1Msd
Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:3775240
cx26
Smn1tm1Msd/Smn1tm1Msd
Tg(Prnp-SMN)92Ahmb/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:3775226
cx27
Smn1tm1Msd/Smn1tm1Msd
Tg(Prnp-SMN)92Ahmb/Tg(Prnp-SMN)92Ahmb
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
involves: 129P2/OlaHsd * FVB/N MGI:3775225
cx28
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1*A2G)2023Ahmb/Tg(SMN1*A2G)2023Ahmb
Grm7Tg(SMN2)89Ahmb/?
involves: 129P2/OlaHsd * FVB/N MGI:3663316
cx29
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1*A2G)2023Ahmb/0
Grm7Tg(SMN2)89Ahmb/0
involves: 129P2/OlaHsd * FVB/N MGI:3663312


Genotype
MGI:5289775
cn1
Allelic
Composition
Olig2tm1(cre)Tmj/Olig2+
Smn1tm1Jme/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129 * 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Olig2tm1(cre)Tmj mutation (0 available); any Olig2 mutation (29 available)
Smn1tm1Jme mutation (2 available); any Smn1 mutation (60 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 70% of mutants survive to about 12 months of age
• about 30% of mutants die before 12 months of age

growth/size/body
• by the second day after birth, mutants show a 15% decrease in weight compared to controls

behavior/neurological
• mutants exhibit reduced grip strength, indicating weakness

muscle
• reduced muscle mass
• average size of mutant fibers is larger than controls
• muscle fiber loss occurs after P7
• atrophic fibers are seen in proximal (triceps) and distal (gastrocnemius) muscles
• small but significant proportion of muscle fibers exhibit centrally located nuclei, suggesting an ongoing regenerative process in muscle
• in an impaired righting ability test, mutants are noticeably weaker by postnatal day 2
• impaired righting reflex gradually subsides so that by the end of the second week of life, differences between mutants and controls are no longer seen
• however mutants continue to display weakness as adults

nervous system
• neonates exhibit a reduction of vGlut1 bouton numbers and their areas on motor neurons and a reduction of the total numbers of puncta in the ventral horn, indicating an aberration in the projection of proprioceptive sensory neurons onto ventral horns
• by P40, mutants exhibit an approximate 40% and 25% reduction in cervical and lumbar motor neurons, respectively
• the number of boutons juxtaposed against ChAT-positive motor neurons is reduced
• mean area of these synaptic boutons is reduced, suggesting an alteration in the synaptic coverage of the ventral horn motor neurons by Ia sensory terminals
• at the presynapse, neurofilament aggregates infiltrate nerve terminals and terminal arbors are swollen
• abnormal amounts of neurofilament protein persist in the nerve terminals of both proximal and distal muscles
• abnormal localization of synaptic vesicles in mutant terminals at P8 but no longer visible at P12
• NMJs in the triceps muscle are smaller, misshapen, and less mature than in controls or in mutant gastrocnemius muscle, indicating delayed maturation
• fragmented NMJs are seen in both triceps and gastrocnemius muscles
• at the postsynapse, more than 75% of gastrocnemial acetylcholine receptor clusters attain the normal pretzel-like conformation, but more than half of them appear fragmented and are measurably larger than in control NMJs
• acetylcholine receptor clusters of the triceps fail to attain the level of complexity as gastrocnemial muscle
• mutants exhibit severe defects of neuromuscular transmission at P8 but these defects are attenuated by P12 as disease progresses
• at P8, 100 Hz nerve stimulation of muscle is only able to produce 34% of the tension produced by direct muscle stimulation compared to 72% in controls, indicating that many junctions fail to active muscle fibers to threshold[?]
• at 100 Hz asynchronous release of calcium disappears at mutant NMJs undergoing numerous failures, suggesting there is little calcium entry into the nerve terminals during these events
• at P8, a decrease in the mean quantal content of the mutant junctions compared with controls, but at P10 and P12 mutant NJMs, the quantal content increases to control levels
• mean mEPP amplitude at mutant NMJs is 50-100% greater than at control junctions at P8, P10 and P12
• semitendinosus muscle of 3 month old mutants shows an increase in mEPP amplitude despite a decrease in input resistance, indicating that neuromuscular transmission defects persist at the NMJs of adults

skeleton

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:164292




Genotype
MGI:5289776
cn2
Allelic
Composition
Olig2tm1(cre)Tmj/Olig2+
Smn1tm1Jme/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Olig2tm1(cre)Tmj mutation (0 available); any Olig2 mutation (29 available)
Smn1tm1Jme mutation (2 available); any Smn1 mutation (60 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:5318858
cn3
Allelic
Composition
Mnx1tm4(cre)Tmj/Mnx1+
Smn1tm1Cdid/Smn1tm1Cdid
Grm7Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * 129S1/Sv * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Mnx1tm4(cre)Tmj mutation (2 available); any Mnx1 mutation (18 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (60 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:3785817
cx4
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Genetic
Background
B6.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive past 2 days with a mean survival of 1 day




Genotype
MGI:3785816
cx5
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
B6.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive past 8 days with a mean survival of 5 days

growth/size/body




Genotype
MGI:3785611
cx6
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice preferentially lack innervation of the caudal band of the levator auris longus
• many endplates are partially occupied or vacant unlike in wild-type mice

muscle
• muscle fiber diameter is decreased in both slow- and fast-twitch muscles compared to in wild-type mice

growth/size/body

mortality/aging
• mean lifespan is 7 days




Genotype
MGI:3785825
cx7
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
Genetic
Background
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*delta7)4299Ahmb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive past 17 days with a mean survival of 13 days

behavior/neurological
• by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice
• by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice
• at P10, mice exhibit abnormal gait with fibrillation of the hindlimbs

nervous system
• in the lumbar region of the spinal cord at P9
• however, spinal motor neuron numbers at P4 are normal
• at P14, many neuromuscular junctions are partially innervated or not innervated
• the diameter of neuromuscular junctions is smaller than in wild-type mice

muscle
• at P14, muscle fibers of the gastrocnemius are small due to atrophy

growth/size/body

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:97103




Genotype
MGI:3785824
cx8
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Tg(SMN2*delta7)4299Ahmb/0
Genetic
Background
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*delta7)4299Ahmb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not survive past 16 days with a mean survival of 10 days




Genotype
MGI:5490996
cx9
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/0
Genetic
Background
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*delta7)4299Ahmb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean lifespan is 13 days

growth/size/body

cardiovascular system
• mutants exhibit an increase in cardiac fibrosis compared to unaffected wild-type controls

muscle




Genotype
MGI:3785610
cx10
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
Genetic
Background
FVB.Cg-Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN2*delta7)4299Ahmb/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*delta7)4299Ahmb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average survival of about 2 weeks

nervous system
• TH staining of the heart to visualize sympathetic innervation indicates that mutants exhibit fewer major neuronal branches and they appear thinner and less distinct
• mice preferentially lack innervation of the caudal band of the levator auris longus
• many endplates are partially occupied or vacant unlike in wild-type mice
• mice exhibit both post- and pre-synaptic pathology at motor neuron endplates

muscle
• muscle fiber diameter is decreased in both slow- and fast-twitch muscles compared to in wild-type mice

cardiovascular system
• hearts appear flaccid and lack defined shape and gross attenuation of walls at P10 and P13
• echocardiography indicates that P6 mice exhibit deficiencies in blood flow out of the right ventricle at the pulmonary valve, with decreased peak velocity and peak gradient, indicating a reduction in pumping efficiency and blood flow from the right ventricle to the lungs
• as mice near end of life, they display a large increase in heart rate variability, ultimately displaying adjacent RR intervals that are highly inconsistent
• mice present bradycardia as early as 2 days of age, before neuromuscular symptoms
• bradyarrhythmia is characterized by progressive heart block and reduced ventricular depolarization efficiency
• at P4, mice have a first-degree heart block characterized by elongated PR interval durations
• at P10, sharp increase in the PR interval and breakdown of cardiac rhythm as mutants exhibit progressive heart block
• elongation of the time of ventricular depolarization through an increase in QRS interval duration beginning at P4

growth/size/body
• begin to lose weight at around P10

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:164446




Genotype
MGI:5318857
cx11
Allelic
Composition
Smn1tm1Cdid/Smn1tm1.1Cdid
Grm7Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1.1Cdid mutation (0 available); any Smn1 mutation (60 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• viable and indistinguishable from control littermates




Genotype
MGI:5318856
cx12
Allelic
Composition
Smn1tm1Cdid/Smn1tm1Cdid
Grm7Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129 * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Cdid mutation (0 available); any Smn1 mutation (60 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:5490787
cx13
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1-SMN2*)16Cll/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN1-SMN2*)16Cll mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean lifespan is 34 days, with mutants living longer than double homozygous Smn1tm1Msd and Tg(SMN2)89Ahmb control mice
• nearly 25% of mutants live beyond 40 days, with several living beyond P70

growth/size/body
• smaller size compared to wild-type controls at P12, although weight is greater than in double homozygous Smn1tm1Msd and Tg(SMN2)89Ahmb control mice and some mutants eventually reach the weight of unaffected mice

behavior/neurological
N
• mutants are more agile and generally fitter than double homozygous Smn1tm1Msd and Tg(SMN2)89Ahmb control mice
• 20-70% of mutants at P5-15 are able to right themselves compared to 100% of unaffected control mice (mice homozygous for Tg(SMN2)89Ahmb and heterozygous for Smn1tm1Msd)
• starting at P5, mutants show increased ability to right compared to triple transgenics homozygous for Smn1tm1Msd and Tg(SMN2)89Ahmb and hemizygous for Tg(SMN2*delta7)4299Ahmb (20-70% vs. 3-15% in the controls)
• mutants stay on the rotorod for shorter periods of time than unaffected controls (mice homozygous for Tg(SMN2)89Ahmb and heterozygous for Smn1tm1Msd)
• mutants show a slight decrease in grip strength compared to unaffected controls (mice homozygous for Tg(SMN2)89Ahmb and heterozygous for Smn1tm1Msd)

muscle
• skeletal muscle fibers are smaller than in wild-type controls, however they are larger than in triple transgenics homozygous for Smn1tm1Msd and Tg(SMN2)89Ahmb and hemizygous for Tg(SMN2*delta7)4299Ahmb

nervous system
• mutants show an approximate 60% reduction of proprioceptive synapses onto motor neurons compared to triple transgenics homozygous for Smn1tm1Msd and Tg(SMN2)89Ahmb and hemizygous for Tg(SMN2*delta7)4299Ahmb
• P19 mutants show an increase in the percentage of neuromuscular junctions with perforated or fragmented endplates compared to controls homozygous for Tg(SMN2)89Ahmb, indicating a defect in synapse maturation
• mutants exhibit a modest but significant reduction in neuromuscular junction innervation in the longissimus muscle

cardiovascular system
• mutants show a slight reduction in interventricular septum thickness, although this does not reach significance
• the interventricular septum thickness is significantly improved compared to triple transgenic controls homozygous for Smn1tm1Msd and Tg(SMN2)89Ahmb and hemizygous for Tg(SMN2*delta7)4299Ahmb
• mutants exhibit a modest, but significant increase in cardiac interstitial fibrosis compared to unaffected wild-type controls
• interstitial fibrosis is significantly improved when compared to triple transgenic controls homozygous for Smn1tm1Msd and Tg(SMN2)89Ahmb and hemizygous for Tg(SMN2*delta7)4299Ahmb

integument
• mutants start to show signs of necrosis on the ears, tails, and/or eyes at approximately P40-P50

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:194969




Genotype
MGI:2677019
cx14
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the majority of mice were stillborn or died within 6 hours of birth
• a slightly less than expected frequency of mice with this genotype suggests that some mice may be dying in utero
• in few cases, mice of this genotype survived up to 6 days of age
• in few cases, mice of this genotype survived up to 6 days of age

behavior/neurological
• mice that survived 4-6 days displayed a decrease or lack of suckling by 48 hours postnatal
• mice that survived 4-6 days showed a marked tremor within 72-96 hours postnatal
• mice that survived 4-6 days showed a decrease in movement within 48-72 hours postnatal

muscle
N
• no musculature atrophy was detected in the quadriceps or gastrocnemius of mice that survived 4-6 days

respiratory system
• mice that survived 4-6 days displayed labored breathing by 48 hours postnatal

nervous system
• dramatic loss of motor neurons were observed in spinal cord (~35% loss) and facial nucleus(~40% loss) at postnatal day 5
• normal numbers of motor neurons were observed in spinal cord and facial nucleus in animals at postnatal day 1

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:60592




Genotype
MGI:3847437
cx15
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Tg(SMN2*A111G)588Ahmb/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*A111G)588Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice survive over a year in contrast to mutants without Tg(SMN2*A111G)588Ahmb which exhibit embryonic lethality




Genotype
MGI:3847439
cx16
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/0
Tg(SMN2*A111G)591Ahmb/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*A111G)591Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice survive over a year (some up to 1.5 years) compared to mutants not carrying the Tg(SMN2*A111G)591Ahmb transgene which have a median survival of 4.4-5 days




Genotype
MGI:3847440
cx17
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*A111G)588Ahmb/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*A111G)588Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice survive over a year (some up to 1.5 years) compared to mutants not carrying the Tg(SMN2*A111G)588Ahmb transgene which show a survival of 4.4-5 days
• animals have no obvious phenotype and are comparable to controls having normal mouse Smn

muscle
• muscle morphology changes suggest muscles have undergone denervation followed by re-innervation
• at 10 months, muscle fibers display hypertrophy with patches of atrophic fibers; average fiber size (mean size of 2870 um2) is greater than Tg(SMN2*A111G)588Ahmb/ Tg(SMN2*A111G)588Ahmb, Smn1tm1Msd/ + (carrier) controls (mean size of 2456 um2) and fiber distribution is shifted to larger range of 2800-3900 um2

nervous system
N
• spinal cord have normal ventral root numbers relative to carrier controls




Genotype
MGI:3847441
cx18
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*A111G)591Ahmb/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*A111G)591Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice survive over a year (some up to 1.5 years) compared to mutants not carrying the Tg(SMN2*A111G)591Ahmb transgene which have a median survival of 4.4-5 days




Genotype
MGI:3847444
cx19
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*)1951Ahmb/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*)1951Ahmb mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals have a mean lifespan of 6.5 days compared to spinal muscular atrophic (SMA) animals which do not carry the Tg(SMN2*)1951Ahmb transgene (4.4 day survival); Tg(SMN2*)1951Ahmb homozygosity does not significantly enhance survival




Genotype
MGI:4835060
cx20
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than the expected numbers of mutants are seen at birth

cardiovascular system
• reduction in width of the interventricular septum at E17.5
• hearts have a thin and branched left ventricular wall at E17.5




Genotype
MGI:4835061
cx21
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN2*delta7)4299Ahmb mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• thinner arterial wall
• the interventricular septum is partially flattened at P5 and P9
• the interventricular septum lacks the normal curvature which results in a D-shaped left ventricle
• reduction in width of the interventricular septum at P5 and P9, but not at P2
• enlargement of the left ventricle at P5 and P9
• interstitial fibrosis due to oxidative stress is initiated at P2 and progresses rapidly
• electrocardiogram indicates longer R-R intervals

cellular
• marker analysis indicates oxidative stress in the heart

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:164444




Genotype
MGI:3775247
cx22
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(ACTA1-SMN)63Ahmb/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(ACTA1-SMN)63Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double mutants survive an average of 6.6 days, with some living past 15 days, representing a slight but significant increase compared to Smn1tm1Msd homozygotes




Genotype
MGI:3775243
cx23
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1*A2G)2023Ahmb/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN1*A2G)2023Ahmb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• mice exhibit motor neuron loss
• at 1 year of age, mice have significantly reduced root counts compared to mice homozygous for Smn1tm1Msd, Tg(Prnp-SMN)92Ahmb, and Tg(SMN2)89Ahmb

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:131663




Genotype
MGI:3775248
cx24
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(ACTA1-SMN)63Ahmb/Tg(ACTA1-SMN)63Ahmb
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(ACTA1-SMN)63Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double mutants survive an average of 160 days, with some living up to a year

muscle
• muscle fiber distribution is different from normal muscle; mice have a greater number of smaller diameter fibers relative to controls

limbs/digits/tail
• tail becomes necrotic by 21 days of age, resulting in tail being very short




Genotype
MGI:3775240
cx25
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(ACTA1-SMN)69Ahmb mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice survive an average of 3.5 days, not significantly different from mean lifespan of 4.6 days of Smn1tm1Msd homozygotes

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:131663




Genotype
MGI:3775226
cx26
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(Prnp-SMN)92Ahmb/0
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(Prnp-SMN)92Ahmb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double mutants survive an average of 150 days




Genotype
MGI:3775225
cx27
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(Prnp-SMN)92Ahmb/Tg(Prnp-SMN)92Ahmb
Grm7Tg(SMN2)89Ahmb/Grm7Tg(SMN2)89Ahmb
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(Prnp-SMN)92Ahmb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double mutants survive an average of 210 days, with many living more than 1 year
• lifespan is less than that of Smn1tm1Msd heterozygotes

muscle
• muscle fiber distribution is different from normal muscle; mice have a greater number of smaller diameter fibers relative to controls

nervous system
N
• mice have normal motor neuron counts and lumbar root counts, compared to triple homozygotes for Smn1tm1Msd, Tg(ACTA1-SMN)63Ahmb, and Tg(SMN2)89Ahmb

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type I; SMA1 253300 J:131663




Genotype
MGI:3663316
cx28
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1*A2G)2023Ahmb/Tg(SMN1*A2G)2023Ahmb
Grm7Tg(SMN2)89Ahmb/?
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN1*A2G)2023Ahmb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• axon sprouting occurs in gastrocnemius and triceps muscles
• sprouts are both nodal and emerge from the neuromuscular junction (terminal)
• otherwise, phenotype is indistinguishable from littermates




Genotype
MGI:3663312
cx29
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN1*A2G)2023Ahmb/0
Grm7Tg(SMN2)89Ahmb/0
Genetic
Background
involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grm7Tg(SMN2)89Ahmb mutation (28 available); any Grm7 mutation (72 available)
Smn1tm1Msd mutation (32 available); any Smn1 mutation (60 available)
Tg(SMN1*A2G)2023Ahmb mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean survival is 227 days

nervous system
• 29% fewer lumbar spinal cord neurons than control in 3.5 month old mice
• 19% fewer facial nucleus neurons than control
• 5 day old mice did not exhibit reduced numbers of motor neurons
• ventral roots from L1-L5 lumbar spinal cord region contain few myelinated axons
• remaining axons are shriveled and exhibit Wallerian degeneration
• increased number of neuromuscular junctions in gastrocnemius
• intranuclear aggregates (gems) of the SMN protein in spinal cord are fewer and less intense than in normal littermates
• reduced amplitudes in evoked muscle potentials from tibial nerve
• axon sprouting occurs in gastrocnemius and triceps muscles
• sprouts are both nodal and emerge from the neuromuscular junction (terminal)

muscle
• angulated and atrophic fibers observed in gastrocnemius and to a lesser extent in quadriceps and intercostal muscles
• samples from multiple pelvic and thoracic muscles exhibit abnormal spontaneous activity of single muscle fibers and of motor units in 4-6 month old mice
• abnormal activity is occasionally accompanied by biphasic sharp waves

growth/size/body
• 20-40% smaller than normal littermates
• toward the end of life

reproductive system

behavior/neurological
• mice fail to groom efficiently toward the end of life
• muscle weakness exhibited by 3 weeks of age
• mice are less active by 3 weeks of age compared to normal littermates
• exhibit very little activity toward the end of life

respiratory system
• mice exhibit short, shallow breeding toward the end of life

Mouse Models of Human Disease
OMIM ID Ref(s)
Spinal Muscular Atrophy, Type III; SMA3 253400 J:81238





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory