Phenotypes Associated with This Genotype

Genotype
MGI:3721431

• Allelic Composition: Smn1^tm1Jme/Smn1^tm1.1Jme; Tg(Eno2-cre)39Jme/0
• Genetic Background: involves: 129 * C57BL/6J * SJL

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

mortality/aging

premature death ( J:61396 )

• extremely reduced life expectancy, dying at a mean age of 25 days

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:61396 )

• severe motor defect evident at 2 weeks of age

impaired righting response ( J:61396 )

tremors ( J:61396 )

• evident at 2 weeks of age

abnormal limb posture ( J:61396 )

• abnormal posture of the hindlimbs

muscle

abnormal skeletal muscle fiber morphology ( J:61396 )

• presence of groups of atrophic muscle fibers and angular fibers intermixed with normal-size fibers

hypotonia ( J:61396 )

• severe hypotonia characterized by a defect of flexor muscles of the limbs and neck when suspended on a horizontal thread

nervous system

abnormal motor neuron morphology ( J:61396 )

• pronounced morphological changes of nuclei of motor neurons

• the presence of indentations of the nuclear membrane

• no significant loss of motor neurons of the anterior horns was detected in 2-weeks old mutant mice

abnormal motor neuron innervation pattern ( J:61396 )

• presence of a marked extrajunctional labeling of acetylcholine receptors indicating a denervation of skeletal muscle of neurogenic orgin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:61396