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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tg(SMN2)2Hung
transgene insertion 2, Hung Li
MGI:3056903
Summary 7 genotypes


Genotype
MGI:5484559
cx1
Allelic
Composition		 Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir/Gt(ROSA)26Sor+
Smn1tm1Hung/Smn1+
Tg(SMN2)2Hung/0
Genetic
Background		 B6N.Cg-Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir Smn1tm1Hung Tg(SMN2)2Hung
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal motor neuron morphology ( J:193844 )
• increased motor neuron size compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
abnormal neuromuscular synapse morphology ( J:193844 )
• at P4 and P8, endplate size is increased compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
• at P1 and P4, endplates exhibit an increase in axon input compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice




Genotype
MGI:5484560
cx2
Allelic
Composition		 Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir/Gt(ROSA)26Sor+
Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/0
Genetic
Background		 B6N.Cg-Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir Smn1tm1Hung Tg(SMN2)2Hung
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice

nervous system
abnormal motor neuron morphology ( J:193844 )
• increased motor neuron size with increased proprioceptive nerves compared with Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice
abnormal proprioceptive neuron morphology ( J:193844 )
• increased proprioceptive nerves in contact with motor neurons compared with Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice
abnormal neuromuscular synapse morphology ( J:193844 )
• at P4, P8 and P11, endplate size is increased compared to in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice
• at P1, P4 and P8, endplates exhibit an increase in axon input compared with Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice

behavior/neurological
abnormal motor capabilities/coordination/movement ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice, mice exhibit impaired motor abilities in tube and righting tests compared with control mice
impaired righting response ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice

growth/size/body
decreased body weight ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice

muscle
increased skeletal muscle fiber size ( J:193844 )
• compared with Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice




Genotype
MGI:5484562
cx3
Allelic
Composition		 Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/0
Genetic
Background		 B6N.Cg-Smn1tm1Hung Tg(SMN2)2Hung
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:193844 )
• mice exhibit reduced survival compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
• Background Sensitivity: mice on a C57BL/6N background exhibit increased survival compared with mice on an FVB/N background but not as much as on a mixed background

nervous system
abnormal motor neuron morphology ( J:193844 )
• decreased motor neuron size with decreased proprioceptive nerves compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
abnormal proprioceptive neuron morphology ( J:193844 )
• decreased proprioceptive nerves in contact with motor neurons compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
abnormal neuromuscular synapse morphology ( J:193844 )
• mice exhibit reduced axon input and endplate side compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice

behavior/neurological
abnormal motor capabilities/coordination/movement ( J:193844 )
• mice exhibit impaired motor abilities in tube and righting tests compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
impaired righting response ( J:193844 )
• compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice

muscle
decreased skeletal muscle fiber size ( J:193844 )
• compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice

growth/size/body
decreased body size ( J:193844 )
• mice on a C57BL/6N background are smaller than mice on an FVB/N or mixed background
decreased body weight ( J:193844 )
• compared with Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice




Genotype
MGI:5484563
cx4
Allelic
Composition		 Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/0
Genetic
Background		 FVB.Cg-Smn1tm1Hung Tg(SMN2)2Hung/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:193844 )
• Background Sensitivity: mice on an FVB/N background exhibit decreased survival compared with mice on a C57BL/6N or mixed background

nervous system
abnormal neuromuscular synapse morphology ( J:193844 )
• Background Sensitivity: mice on an FVB/N background exhibit smaller endplate size compared with mice on a mixed background

muscle
decreased skeletal muscle fiber size ( J:193844 )
• Background Sensitivity: mice on an FVB/N background exhibit smaller muscle fiber size compared with mice on a mixed background




Genotype
MGI:5484561
cx5
Allelic
Composition		 Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir/Gt(ROSA)26Sor+
Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/0
Genetic
Background		 involves: 129P2/OlaHsd * 129S4/SvJae * BALB/cJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(CAG-PLS3,-GFP)Bwir mutation (0 available); any Gt(ROSA)26Sor mutation (993 available)
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:193844 )
• Background Sensitivity: unlike mice on a C57BL/6N background, mice on a mixed background exhibit premature death with a modest increased in mean survival compared with Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice

nervous system
nervous system phenotype ( J:193844 )
N
• unlike in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, mice exhibit restored synaptic vesicle area with an increase in the synaptic vesicle to endplate area ratio at P14, active zones and endplate potential electrophysiology
abnormal synaptic vesicle number ( J:193844 )
• mice exhibit an partial restoration of readily releasable pool and quantal content compared with Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung

digestive/alimentary system
abnormal intestinal mucosa morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, small intestine mucosal epithelial cells exhibit intracytoplasmatic vacuoles at the tips of the villi and lacteals are occasionally dilated
abnormal colon morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria
abnormal small intestine morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
abnormal small intestinal villus morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria
decreased small intestinal villus size ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria

respiratory system
abnormal lung morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
abnormal pulmonary alveolus morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces
abnormal pulmonary interalveolar septum morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces
emphysema ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

behavior/neurological
abnormal motor capabilities/coordination/movement ( J:193844 )
• Background Sensitivity: mice unlike mice on a C57BL/6N background, mice exhibit impaired motor abilities in tube and righting tests that is not as severe as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung mice
impaired righting response ( J:193844 )
• Background Sensitivity: mice unlike mice on a C57BL/6N background, mice on a mixed background exhibit impaired righting that is not as severe as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung

cardiovascular system
abnormal heart morphology ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung, mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
thin interventricular septum ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung
small heart ( J:193844 )
• as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung

growth/size/body
decreased body weight ( J:193844 )
• Background Sensitivity: mice unlike mice on a C57BL/6N background, mice on a mixed background exhibit decreased body weight that is not as severe as in Smn1tm1Hung/Smn1tm1Hung Tg(SMN2)2Hung




Genotype
MGI:5484564
cx6
Allelic
Composition		 Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:193844 )
• Background Sensitivity: mice on a mixed background exhibit increased survival compared with mice on a C57BL/6N or FVB/N background

nervous system
abnormal neuromuscular synapse morphology ( J:193844 )
• Background Sensitivity: mice on a mixed background exhibit increased endplate size compared with mice on an FVB/N background
abnormal synaptic vesicle morphology ( J:193844 )
• at P4 and P14, the area of nerve terminals occupied by synaptic vesicle area is decreased compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
• at P14, the number of active zones is reduced compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice
abnormal endplate potential ( J:193844 )
• mice exhibit an increase rise and decay time compared to in Smn1tm1Hung/Smn1+ Tg(SMN2)2Hung mice

digestive/alimentary system
abnormal intestinal mucosa morphology ( J:193844 )
• small intestine mucosal epithelial cells exhibit intracytoplasmatic vacuoles at the tips of the villi and lacteals are occasionally dilated
abnormal colon morphology ( J:193844 )
• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
• the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria
abnormal small intestine morphology ( J:193844 )
• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
abnormal small intestinal villus morphology ( J:193844 )
• the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria
decreased small intestinal villus size ( J:193844 )
• the small intestine and colon exhibits fewer villi that are blunted and club-shaped with severe intramural edema in the lamina propria

respiratory system
abnormal lung morphology ( J:193844 )
• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12
abnormal pulmonary alveolus morphology ( J:193844 )
• lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces
abnormal pulmonary interalveolar septum morphology ( J:193844 )
• lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces
emphysema ( J:193844 )
• lungs exhibit variable degrees of emphysema with ruptured alveolar septa and enlarged alveolar spaces

cardiovascular system
abnormal heart morphology ( J:193844 )
• mice exhibit multi-organ failure with lesions in the small intestine, colon, lung and heart at P12

muscle
increased skeletal muscle fiber size ( J:193844 )
• Background Sensitivity: mice on a mixed background exhibit larger muscle fiber size than in mice on an FVB/N background




Genotype
MGI:3663375
cx7
Allelic
Composition		 Smn1tm1Hung/Smn1tm1Hung
Tg(SMN2)2Hung/Tg(SMN2)2Hung
Genetic
Background		 involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Hung mutation (4 available); any Smn1 mutation (87 available)
Tg(SMN2)2Hung mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:59313 )
• mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks
postnatal lethality, incomplete penetrance ( J:59313 )
• mice with the most severe phenotype (type 1) die before P10
• mice with an intermediate phenotype (type 2) die at approximately 2-4 weeks
• mice with a mild phenotype (type 3) live a normal lifespan

nervous system
abnormal astrocyte morphology ( J:59313 )
• presence of glial bundles observed in anterior spinal root of type 1 mice
abnormal motor neuron morphology ( J:59313 )
• selective loss of thick myelinated fibers observed in anterior spinal root of type 1 mice
decreased motor neuron number ( J:59313 )
• loss of large motor neurons in anterior horns of spinal cord with appearance of empty cell beds
• phenotype is not observed in type 3 mice
chromatolysis ( J:59313 )
• exhibited in motor neurons of anterior horn of type 1 mice
axon degeneration ( J:59313 )
• exhibited in anterior spinal roots
• phenotype is not observed in type 3 mice

muscle
decreased skeletal muscle fiber diameter ( J:59313 )
• decreased diameter of muscle fibers in tail
increased skeletal muscle fiber size ( J:59313 )
• atrophic fibers associated with hypertrophic type 1 fibers in type 1 mice
decreased skeletal muscle fiber number ( J:59313 )
• fewer muscle fibers in trunk and limb muscles
muscular atrophy ( J:59313 )
• atrophy of muscle bundles in tail, trunk and limb muscles

limbs/digits/tail
abnormal tail morphology ( J:59313 )
• decreased diameter of muscle fibers, atrophy of muscle bundles, group atrophy and subcutaneous edema
• edema is more severe in type 3 than in type 2 mice and rare in type 1 mice
short tail ( J:59313 )
• exhibited by mice with the type 3 phenotype
tail necrosis ( J:59313 )
• 50% of type 1 and 2 mice develop chronic necrosis from the tip of the tail to the root
thick tail ( J:59313 )
• exhibited by mice with the type 3 phenotype

homeostasis/metabolism
extremity edema ( J:59313 )
• subcutaneous edema of tail, most severe in type 3 mice and rare in type 1
• subcutaneous edema of hindlimbs

behavior/neurological
hindlimb paralysis ( J:59313 )
• exhibited in some type 2 mice

growth/size/body
decreased body weight ( J:59313 )
• exhibited by all three phenotypes, decrease is proportionate to severity of symptoms

integument
hairless ( J:59313 )
• type 1 mice do not develop fur

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
 J:59313




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory