Phenotypes Associated with This Genotype

Genotype
MGI:3785825

• Allelic Composition: Smn1^tm1Msd/Smn1^tm1Msd; Grm7^{Tg(SMN2)89Ahmb}/Grm7^{Tg(SMN2)89Ahmb}; Tg(SMN2*delta7)4299Ahmb/Tg(SMN2*delta7)4299Ahmb
• Genetic Background: FVB.Cg-Grm7^{Tg(SMN2)89Ahmb} Smn1^tm1Msd Tg(SMN2*delta7)4299Ahmb

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

mortality/aging

postnatal lethality, complete penetrance ( J:97103 )

• mice do not survive past 17 days with a mean survival of 13 days

behavior/neurological

impaired righting response ( J:97103 )

• at P5

impaired balance ( J:97103 )

• by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice

impaired limb coordination ( J:97103 )

• by day 10, mice experience difficulty walking and often fall while walking unlike wild-type mice

abnormal gait ( J:97103 )

• at P10, mice exhibit abnormal gait with fibrillation of the hindlimbs

nervous system

decreased motor neuron number ( J:97103 )

• in the lumbar region of the spinal cord at P9

• however, spinal motor neuron numbers at P4 are normal

abnormal neuromuscular synapse morphology ( J:97103 )

• at P14, many neuromuscular junctions are partially innervated or not innervated

• the diameter of neuromuscular junctions is smaller than in wild-type mice

muscle

skeletal muscle fiber atrophy ( J:97103 )

• at P14, muscle fibers of the gastrocnemius are small due to atrophy

growth/size/body

decreased body weight ( J:97103 )

• at P5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:97103