Phenotypes Associated with This Genotype

Genotype
MGI:3847440

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Grm7^{Tg(SMN2)89Ahmb}/Grm7^{Tg(SMN2)89Ahmb}; Tg(SMN2*A111G)588Ahmb/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

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

mortality/aging

mortality/aging ( J:148541 )

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

N • animals have no obvious phenotype and are comparable to controls having normal mouse Smn

muscle

abnormal skeletal muscle morphology ( J:148541 )

• muscle morphology changes suggest muscles have undergone denervation followed by re-innervation

abnormal gastrocnemius morphology ( J:148541 )

• 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, Smn1^tm1Msd/ ⁺ (carrier) controls (mean size of 2456 um²) and fiber distribution is shifted to larger range of 2800-3900 um²

nervous system

nervous system phenotype ( J:148541 )

N • spinal cord have normal ventral root numbers relative to carrier controls

limbs/digits/tail

abnormal gastrocnemius morphology ( J:148541 )

• 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, Smn1^tm1Msd/ ⁺ (carrier) controls (mean size of 2456 um²) and fiber distribution is shifted to larger range of 2800-3900 um²