Phenotypes Associated with This Genotype

Genotype
MGI:3721894

• Allelic Composition: Smn1^tm1Jme/Smn1^tm1.1Jme; Tg(ACTA1-cre)79Jme/0
• Genetic Background: involves: 129 * C57BL/6J * SJL

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

mortality/aging

premature death ( J:67884 )

• extremely reduced life expectancy, dying at a mean age of 33 days

behavior/neurological

abnormal limb posture ( J:67884 )

• in 4 weeks old mutant mice

abnormal locomotor behavior ( J:67884 )

• reduced spontaneous and induced motor activity after 3 weeks of age

paralysis ( J:67884 )

• severe muscle paralysis after 3 weeks of age

skeleton

kyphosis ( J:67884 )

• severe kyphosis after 3 weeks of age

muscle

skeletal muscle necrosis ( J:67884 )

• in 4-weeks-old mutant mice

abnormal skeletal muscle fiber morphology ( J:67884 )

• infiltration of connective tissue with mononuclear cells, and regenerating myocytes in 4-weeks-old mutant mice

• the morphology of skeletal muscle from mutant mice was similar to that of control at 3 weeks of except the presence of some rare necrotic muscle fibers surrounded by mononuclear cell infiltration

increased variability of skeletal muscle fiber size ( J:67884 )

• excessive variation in fiber size

centrally nucleated skeletal muscle fibers ( J:67884 )

• large central nuclei in 4-weeks-old mutant mice

abnormal muscle physiology ( J:67884 )

• based on immunological examination, mutant mice display destabilization of the sarcolemma indicated by increased serum creatine kinase activity, abnormal uptake of a membrane impermeant molecule, and patchy or lacking dystrophin

nervous system

nervous system phenotype ( J:67884 )

N • the morphology of motor neurons was similar to that of control and no significant loss of motor neurons of the anterior horns was detected in mutant mice at 4 weeks of age

homeostasis/metabolism

increased circulating creatine kinase level ( J:67884 )

cellular

skeletal muscle necrosis ( J:67884 )

• in 4-weeks-old mutant mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:67884