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Phenotypes Associated with This Genotype
Genotype
MGI:4818925
Allelic
Composition
Smn1tm1Msd/Smn1tm1Msd
Tg(SMN2)11Tro/0
Tg(SMN2)46Tro/0
Genetic
Background
B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1tm1Msd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Msd mutation (37 available); any Smn1 mutation (86 available)
Tg(SMN2)11Tro mutation (2 available)
Tg(SMN2)46Tro mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• more mice survive to adulthood and exhibit normal lethality when Tg(SMN2)11Tro is inherited paternally and Tg(SMN2)46Tro maternally than the reverse
• 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
• at P15, mice exhibit a decrease in motor neurons in the lumbar vertebrae compared to in wild-type mice
• synpatic boutons exhibit neurofilament accumulation, are thick and swollen, and contain axonal disorganization compared to in wild-type mice
• at P15, neuromuscular synapses are disorganized with loss of endplate architecture compared to in wild-type mice
• at P15, mice exhibit a non-statistically significant axon loss in the phrenic nerves unlike wild-type mice
• 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 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
• muscle fiber diameter in the gastrocnemius is reduced compared to in wild-type mice
• at P15, mice exhibit reduced compound muscle action potential (CMAP) amplitude and extend CMAP latency and duration compared with wild-type mice
• at P9 and worsening over the following week

respiratory system
• from P1 to P7, maturation of breathing variables is impaired compared with wild-type mice
• at P7, mice exhibit apneas unlike wild-type mice
• at P7, breath duration is increased compared to in wild-type mice
• however, breath duration at P1 is normal
• 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
N
• mice exhibit normal righting response
• mice exhibit normal response to hypoxia including normal increase in ventilation, ultrasonic vocalization, and motor responses
• at P14
• 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

limbs/digits/tail
• in mice that survive to adulthood
• in mice that survive to adulthood

growth/size/body
• in mice that survive to adulthood

hearing/vestibular/ear
• in mice that survive to adulthood

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

craniofacial
• 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


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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory