Phenotypes associated with this allele

• Allele Symbol: Tg(SMN2)46Tro
• Allele Name: transgene insertion 46, Thierry Bordet
• Allele ID: MGI:3832058
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)46Tro/Tg(SMN2)46Tro	B6.Cg-Smn1^tm1Msd Tg(SMN2)46Tro	MGI:3832210
cx2	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)46Tro/0	B6.Cg-Smn1^tm1Msd Tg(SMN2)46Tro	MGI:3832211
cx3	Smn1^tm1Msd/Smn1^+ Tg(SMN2)46Tro/Tg(SMN2)46Tro	B6.Cg-Smn1^tm1Msd Tg(SMN2)46Tro	MGI:3832213
cx4	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)11Tro/0 Tg(SMN2)46Tro/0	B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1^tm1Msd/J	MGI:4818925
cx5	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)46Tro/Tg(SMN2)46Tro	B6.Cg-Tg(SMN2)46Tro Smn1^tm1Msd/J	MGI:4818923
cx6	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)46Tro/0	B6.Cg-Tg(SMN2)46Tro Smn1^tm1Msd/J	MGI:4818924
tg7	Tg(SMN2)46Tro/Tg(SMN2)46Tro	involves: C57BL/6 * FVB/N	MGI:3832207

Genotype
MGI:3832210

cx1

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Tg(SMN2)46Tro/Tg(SMN2)46Tro
• Genetic Background: B6.Cg-Smn1^tm1Msd Tg(SMN2)46Tro

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal tooth morphology ( J:144853 )

• some animals have necrotic lesions on the teeth

integument

skin lesions ( J:144853 )

• homozygous mice exhibit necrotic lesions on their tails and ears

growth/size/body

abnormal tooth morphology ( J:144853 )

• some animals have necrotic lesions on the teeth

skeleton

abnormal tooth morphology ( J:144853 )

• some animals have necrotic lesions on the teeth

Genotype
MGI:3832211

cx2

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Tg(SMN2)46Tro/0
• Genetic Background: B6.Cg-Smn1^tm1Msd Tg(SMN2)46Tro

mortality/aging

embryonic lethality ( J:144853 )

Genotype
MGI:3832213

cx3

• Allelic Composition: Smn1^tm1Msd/Smn1⁺; Tg(SMN2)46Tro/Tg(SMN2)46Tro
• Genetic Background: B6.Cg-Smn1^tm1Msd Tg(SMN2)46Tro

nervous system

nervous system phenotype ( J:144853 )

N

Genotype
MGI:4818925

cx4

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Tg(SMN2)11Tro/0; Tg(SMN2)46Tro/0
• Genetic Background: B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1^tm1Msd/J

mortality/aging

decreased survivor rate ( J:159930 )

• more mice survive to adulthood and exhibit normal lethality when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally than the reverse

postnatal lethality, incomplete penetrance ( J:159930 )

• average survival is 15 days when Tg(SMN2)11Tro is inherited maternally and Tg(SMN2)46Tro paternally

• median survival is 14 days when Tg(SMN2)11Tro is inherited maternally and Tg(SMN2)46Tro paternally

• median survival is 22 days when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally

nervous system

decreased motor neuron number ( J:159930 )

• at P15, mice exhibit a decrease in motor neurons in the lumbar vertebrae compared to in wild-type mice

abnormal synaptic bouton morphology ( J:159930 )

• synpatic boutons exhibit neurofilament accumulation, are thick and swollen, and contain axonal disorganization compared to in wild-type mice

abnormal neuromuscular synapse morphology ( J:159930 )

• at P15, neuromuscular synapses are disorganized with loss of endplate architecture compared to in wild-type mice

abnormal phrenic nerve morphology ( J:159930 )

• at P15, mice exhibit a non-statistically significant axon loss in the phrenic nerves unlike wild-type mice

abnormal sciatic nerve morphology ( J:159930 )

• at P15, mice exhibit a reduction in the number of myelinated axons of the ventral roots of the sciatic nerve compared with wild-type mice

axon degeneration ( J:159930 )

• at P15, mice exhibit a reduction in the number of myelinated axons of the ventral roots of the sciatic nerve compared with wild-type mice

• at P15, mice exhibit a non-statistically significant axon loss in the phrenic nerves unlike wild-type mice

muscle

abnormal skeletal muscle fiber morphology ( J:159930 )

• muscle fiber diameter in the gastrocnemius is reduced compared to in wild-type mice

muscular atrophy ( J:159930 )

abnormal muscle electrophysiology ( J:159930 )

• at P15, mice exhibit reduced compound muscle action potential (CMAP) amplitude and extend CMAP latency and duration compared with wild-type mice

progressive muscle weakness ( J:159930 )

• at P9 and worsening over the following week

respiratory system

abnormal respiration ( J:159930 )

• from P1 to P7, maturation of breathing variables is impaired compared with wild-type mice

apnea ( J:159930 )

• at P7, mice exhibit apneas unlike wild-type mice

abnormal respiratory mechanics ( J:159930 )

• at P7, breath duration is increased compared to in wild-type mice

• however, breath duration at P1 is normal

decreased pulmonary ventilation ( J:159930 )

• at P7 but not P1, mice exhibit decreased pulmonary ventilation compared with wild-type mice

• however, mice exhibit a normal increase in ventilation in response to hypoxia

behavior/neurological

behavior/neurological phenotype ( J:159930 )

N • mice exhibit normal righting response

N • mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses

abnormal gait ( J:159930 )

• at P14

positive geotaxis ( J:159930 )

• mice exhibit reduced performance in a negative geotaxis test compared with wild-type mice

• up to P12, mice fail to reorient themselves gravitationally head upwards within 60 seconds or exhibit increased latency compared with wild-type mice

increased thermal nociceptive threshold ( J:159930 )

limbs/digits/tail

abnormal autopod morphology ( J:159930 )

• in mice that survive to adulthood

abnormal tail morphology ( J:159930 )

• in mice that survive to adulthood

growth/size/body

abnormal outer ear morphology ( J:159930 )

• in mice that survive to adulthood

slow postnatal weight gain ( J:159930 )

• after P4

hearing/vestibular/ear

abnormal outer ear morphology ( J:159930 )

• in mice that survive to adulthood

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:159930 )

N • mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses

craniofacial

abnormal outer ear morphology ( J:159930 )

• in mice that survive to adulthood

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:159930

Genotype
MGI:4818923

cx5

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Tg(SMN2)46Tro/Tg(SMN2)46Tro
• Genetic Background: B6.Cg-Tg(SMN2)46Tro Smn1^tm1Msd/J

mortality/aging

mortality/aging ( J:159930 )

N • mice exhibit a normal lifespan

limbs/digits/tail

abnormal autopod morphology ( J:159930 )

• mice exhibit swollen hind paws unlike wild-type mice

abnormal tail morphology ( J:159930 )

• mice exhibit shortening and loss of their tails unlike wild-type mice

hearing/vestibular/ear

abnormal outer ear morphology ( J:159930 )

• mice exhibit degeneration of the external ear tissue unlike in wild-type mice

growth/size/body

abnormal outer ear morphology ( J:159930 )

• mice exhibit degeneration of the external ear tissue unlike in wild-type mice

slow postnatal weight gain ( J:159930 )

craniofacial

abnormal outer ear morphology ( J:159930 )

• mice exhibit degeneration of the external ear tissue unlike in wild-type mice

Genotype
MGI:4818924

cx6

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Tg(SMN2)46Tro/0
• Genetic Background: B6.Cg-Tg(SMN2)46Tro Smn1^tm1Msd/J

mortality/aging

embryonic lethality ( J:159930 )

Genotype
MGI:3832207

tg7

• Allelic Composition: Tg(SMN2)46Tro/Tg(SMN2)46Tro
• Genetic Background: involves: C57BL/6 * FVB/N

normal phenotype

no abnormal phenotype detected ( J:144853 )

• homozygous mice do not display an abnormal phenotype