Phenotypes associated with this allele

• Allele Symbol: Tg(SMN2*A111G)588Ahmb
• Allele Name: transgene insertion 588, Arthur H M Burghes
• Allele ID: MGI:3847324
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Smn1^tm1Msd/Smn1^tm1Msd Grm7^Tg(SMN2)89Ahmb/Grm7^+ Tg(SMN2*A111G)588Ahmb/0	involves: 129P2/OlaHsd * FVB/N	MGI:3847437
cx2	Smn1^tm1Msd/Smn1^tm1Msd Grm7^Tg(SMN2)89Ahmb/Grm7^Tg(SMN2)89Ahmb Tg(SMN2*A111G)588Ahmb/0	involves: 129P2/OlaHsd * FVB/N	MGI:3847440
cx3	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2*A111G)588Ahmb/0	involves: 129P2/OlaHsd * FVB/N	MGI:3847443
cx4	Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN1*A2G)2023Ahmb/0 Tg(SMN2*A111G)588Ahmb/0	involves: 129P2/OlaHsd * FVB/N	MGI:3847566

Genotype
MGI:3847437

cx1

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Grm7^{Tg(SMN2)89Ahmb}/Grm7⁺; 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 in contrast to mutants without Tg(SMN2*A111G)588Ahmb which exhibit embryonic lethality

Genotype
MGI:3847440

cx2

• 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

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

Genotype
MGI:3847443

cx3

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

mortality/aging

mortality/aging ( J:148541 )

N • no animals of this genotype are observed at birth

Genotype
MGI:3847566

cx4

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Tg(SMN1*A2G)2023Ahmb/0; Tg(SMN2*A111G)588Ahmb/0
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

mortality/aging

prenatal lethality, complete penetrance ( J:148541 )

• 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