Phenotypes associated with this allele
mortality/aging
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N |
• mice survive over a year in contrast to mutants without Tg(SMN2*A111G)588Ahmb which exhibit embryonic lethality
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mortality/aging
|
N |
• mice survive over a year (some up to 1.5 years) compared to mutants not carrying the Tg(SMN2*A111G)588Ahmb transgene which show a survival of 4.4-5 days
• animals have no obvious phenotype and are comparable to controls having normal mouse Smn
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muscle
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• muscle morphology changes suggest muscles have undergone denervation followed by re-innervation
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• at 10 months, muscle fibers display hypertrophy with patches of atrophic fibers; average fiber size (mean size of 2870 um2) is greater than Tg(SMN2*A111G)588Ahmb/ Tg(SMN2*A111G)588Ahmb, Smn1tm1Msd/ + (carrier) controls (mean size of 2456 um2) and fiber distribution is shifted to larger range of 2800-3900 um2
|
nervous system
|
N |
• spinal cord have normal ventral root numbers relative to carrier controls
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limbs/digits/tail
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• at 10 months, muscle fibers display hypertrophy with patches of atrophic fibers; average fiber size (mean size of 2870 um2) is greater than Tg(SMN2*A111G)588Ahmb/ Tg(SMN2*A111G)588Ahmb, Smn1tm1Msd/ + (carrier) controls (mean size of 2456 um2) and fiber distribution is shifted to larger range of 2800-3900 um2
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smn1tm1Msd mutation
(37 available);
any
Smn1 mutation
(86 available)
Tg(SMN2*A111G)588Ahmb mutation
(2 available)
|
|
|
mortality/aging
|
N |
• no animals of this genotype are observed at birth
|
mortality/aging
|
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• no animals of this genotype are observed at birth, indicating that the two missense SMN alleles cannot complement one another to form a functional complex and rescue the Smn1 deficiency
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Analysis Tools
