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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tg(SMN2*delta7)4299Ahmb
transgene insertion 4299, Arthur H M Burghes
MGI:3056918
Summary 6 genotypes


Genotype
MGI:3785824
cx1
Allelic
Composition		 Smn1tm1Msd/Smn1tm1Msd
Grm7Tg(SMN2)89Ahmb/Grm7+
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 (34 available); any Grm7 mutation (125 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2*delta7)4299Ahmb mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:97103 )
• mice do not survive past 16 days with a mean survival of 10 days




Genotype
MGI:3785825
cx2
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 (34 available); any Grm7 mutation (125 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2*delta7)4299Ahmb mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:97103 )
• mice do not survive past 17 days with a mean survival of 13 days

behavior/neurological
impaired balance ( J:97103 )
• by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice
impaired limb coordination ( J:97103 )
• by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice
abnormal gait ( J:97103 )
• at P10, mice exhibit abnormal gait with fibrillation of the hindlimbs

nervous system
decreased motor neuron number ( J:97103 )
• in the lumbar region of the spinal cord at P9
• however, spinal motor neuron numbers at P4 are normal
abnormal neuromuscular synapse morphology ( J:97103 )
• at P14, many neuromuscular junctions are partially innervated or not innervated
• the diameter of neuromuscular junctions is smaller than in wild-type mice

muscle
skeletal muscle fiber atrophy ( J:97103 )
• at P14, muscle fibers of the gastrocnemius are small due to atrophy

growth/size/body
decreased body weight ( J:97103 )
• at P5

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
 J:97103




Genotype
MGI:3785610
cx3
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 (34 available); any Grm7 mutation (125 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2*delta7)4299Ahmb mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, complete penetrance ( J:164446 )
• average survival of about 2 weeks

nervous system
abnormal sympathetic system morphology ( J:164446 )
• TH staining of the heart to visualize sympathetic innervation indicates that mutants exhibit fewer major neuronal branches and they appear thinner and less distinct
abnormal innervation pattern to muscle ( J:132467 )
• mice preferentially lack innervation of the caudal band of the levator auris longus
abnormal neuromuscular synapse morphology ( J:132467 )
• 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
decreased skeletal muscle fiber diameter ( J:132467 )
• muscle fiber diameter is decreased in both slow- and fast-twitch muscles compared to in wild-type mice

cardiovascular system
abnormal heart morphology ( J:164446 )
• hearts appear flaccid and lack defined shape and gross attenuation of walls at P10 and P13
abnormal blood flow velocity ( J:164446 )
• 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
increased heart rate variability ( J:164446 )
• as mice near end of life, they display a large increase in heart rate variability, ultimately displaying adjacent RR intervals that are highly inconsistent
decreased heart rate ( J:164446 )
• 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
prolonged PR interval ( J:164446 )
• 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
prolonged QRS complex duration ( J:164446 )
• elongation of the time of ventricular depolarization through an increase in QRS interval duration beginning at P4

growth/size/body
decreased body size ( J:164446 )
weight loss ( J:164446 )
• begin to lose weight at around P10

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
 J:164446




Genotype
MGI:5490996
cx4
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 (34 available); any Grm7 mutation (125 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2*delta7)4299Ahmb mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality ( J:194969 )
• mean lifespan is 13 days

growth/size/body
decreased body weight ( J:194969 )

cardiovascular system
cardiac interstitial fibrosis ( J:194969 )
• mutants exhibit an increase in cardiac fibrosis compared to unaffected wild-type controls

muscle

cellular
cardiac interstitial fibrosis ( J:194969 )
• mutants exhibit an increase in cardiac fibrosis compared to unaffected wild-type controls




Genotype
MGI:4835061
cx5
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 (34 available); any Grm7 mutation (125 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2*delta7)4299Ahmb mutation (13 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal artery morphology ( J:164444 )
• thinner arterial wall
abnormal interventricular septum morphology ( J:164444 )
• 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
thin interventricular septum ( J:164444 )
• reduction in width of the interventricular septum at P5 and P9, but not at P2
increased heart left ventricle size ( J:164444 )
• enlargement of the left ventricle at P5 and P9
cardiac interstitial fibrosis ( J:164444 )
• interstitial fibrosis due to oxidative stress is initiated at P2 and progresses rapidly
prolonged RR interval ( J:164444 )
• electrocardiogram indicates longer R-R intervals

cellular
cardiac interstitial fibrosis ( J:164444 )
• interstitial fibrosis due to oxidative stress is initiated at P2 and progresses rapidly
oxidative stress ( J:164444 )
• marker analysis indicates oxidative stress in the heart

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Werdnig-Hoffmann disease DOID:13137 OMIM:253300
 J:164444




Genotype
MGI:5286604
cx6
Allelic
Composition		 Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy/Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy
Smn1tm1Msd/Smn1+
Tg(SMN2)#Ahmb/Tg(SMN2)#Ahmb
Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
Tg(tetO-SMN2,-luc)#aAhmb/0
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(rtTA,EGFP)Nagy mutation (6 available); any Gt(ROSA)26Sor mutation (1006 available)
Smn1tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2)#Ahmb mutation (0 available)
Tg(SMN2*delta7)4299Ahmb mutation (13 available)
Tg(tetO-SMN2,-luc)#aAhmb mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:174960 )
• only one mouse treated with doxycycline at P2 survived for 151 days
postnatal lethality, complete penetrance ( J:174960 )
• un-induced mice die on average at P14
• however, mice treated with doxycycline at E13 or at birth live for over 200 days

digestive/alimentary system
abnormal intestine morphology ( J:174960 )
• some doxycycline-treated mice exhibit impacted bowel and pockets of fluid and gas unlike control mice

growth/size/body
decreased body size ( J:174960 )
• doxcycline-treated mice are smaller than control mice

behavior/neurological
behavior/neurological phenotype ( J:174960 )
N
• doxycycline-treated mice exhibit normal motor function
decreased locomotor activity ( J:174960 )
• in doxcycline-treated mice close to death

hearing/vestibular/ear
abnormal ear morphology ( J:174960 )
• some doxycycline-treated mice exhibit ear necrosis compared with control mice

nervous system
nervous system phenotype ( J:174960 )
N
• doxycycline-treated mice exhibit normal endplates and miniature endplate currents and neuromuscular junctions




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory