All Phenotypes Tg(SMN2)11Tro MGI Mouse

Phenotypes associated with this allele

Allelic Composition	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)11Tro/Tg(SMN2)11Tro
Genetic Background	B6.Cg-Smn1^tm1Msd Tg(SMN2)11Tro

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2)11Tro mutation (2 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:144852 )

neonatal lethality, incomplete penetrance ( J:144852 )

growth/size/body

decreased birth body size ( J:144852 )

• mice that die at or soon after birth are slightly smaller than normal littermates

decreased body weight ( J:144852 )

• mice surviving beyond the neonatal period appear normal compared to normal littermates, but after 48 hours exhibit diminished weight gain

abnormal embryonic growth/weight/body size ( J:144852 )

• mice that die at or soon after birth are slightly smaller than normal littermates

Allelic Composition	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)11Tro/0
Genetic Background	B6.Cg-Smn1^tm1Msd Tg(SMN2)11Tro

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2)11Tro mutation (2 available)

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

mortality/aging

embryonic lethality ( J:144852 )

Allelic Composition	Smn1^tm1Msd/Smn1⁺ Tg(SMN2)11Tro/Tg(SMN2)11Tro
Genetic Background	B6.Cg-Smn1^tm1Msd Tg(SMN2)11Tro

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2)11Tro mutation (2 available)

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

nervous system

nervous system phenotype ( J:144852 )

N	• homozygous mice do not show an spinal muscular atrophy (SMA)-like phenotype

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2)11Tro mutation (2 available)

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

mortality/aging

embryonic lethality ( J:159930 )

Allelic Composition	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)11Tro/Tg(SMN2)11Tro
Genetic Background	B6.Cg-Tg(SMN2)11Tro Smn1^tm1Msd/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1^tm1Msd mutation (37 available); any Smn1 mutation (87 available)
Tg(SMN2)11Tro mutation (2 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:159930 )

• mice die 6 days after birth

growth/size/body

weight loss ( J:159930 )

• mice start to lose weight 48 hours after birth unlike wild-type mice

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

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 • 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

Allelic Composition	Tg(SMN2)11Tro/Tg(SMN2)11Tro
Genetic Background	involves: C57BL/6 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(SMN2)11Tro mutation (2 available)

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

nervous system

nervous system phenotype ( J:144852 )

N	• homozygous mice do not show an spinal muscular atrophy (SMA)-like phenotype

Contributing Projects: 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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