Phenotypes Associated with This Genotype

Genotype
MGI:5287852

• Allelic Composition: Smn1^tm1Jme/Smn1^tm1Jme; 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:89836 )

• mutants die at an average of 31 days of age

nervous system

motor neuron degeneration ( J:89836 )

• progressive degeneration of motor nerves beginning at 20 days of age, with about 35% loss at 30 days in the phrenic nerve and about 45% in the facial nerve

• progressive degeneration is also seen in the trochlear nuclei and in the motoneurons of the spinal cord

• however, no loss of trigeminal or hypoglossal motoneurons is observed

abnormal facial nerve morphology ( J:89836 )

• progressive degeneration of the facial nerve such that at 30 days, 45% loss is observed

abnormal phrenic nerve morphology ( J:89836 )

• progressive degeneration of the phrenic nerves such that at 30 days, 35% loss is observed

axon degeneration ( J:89836 )

• progressive axon degeneration that begins at 20 days of age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:89836 )

• mutants exhibit motor defects at two weeks of age

growth/size/body

weight loss ( J:89836 )

• mutants exhibit weight loss at two weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Werdnig-Hoffmann disease		DOID:13137	OMIM:253300	J:89836