Phenotypes Associated with This Genotype

Genotype
MGI:5470095

• Allelic Composition: Psmc4^tm1.1Ryot/Psmc4^tm1.2Ryot; Tg(SLC18A3-cre)KMisa/0
• Genetic Background: involves: C57BL/6 * C57BL/6N

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

Limb clasping and severe kyphosis in Psmc4^tm1.1Ryot/Psmc4^tm1.2Ryot Tg(SLC18A3-cre)KMisa/0 mice

mortality/aging

mortality/aging ( J:193770 )

N • mice exhibit normal survival until at least 48 weeks of age

nervous system

microgliosis ( J:193770 )

• at 12 weeks with few at 40 weeks of age

astrocytosis ( J:193770 )

• as early as 6 weeks of age and persisting until 40 weeks of age

abnormal motor neuron morphology ( J:193770 )

• chromatolytic neurons and basophilic inclusions with eosinophilic cytoplasm at 12 weeks of age

decreased motor neuron number ( J:193770 )

• from 6 weeks of age

motor neuron degeneration ( J:193770 )

• loss of motor neurons with cytoplasmic Tardbp/TDP-43

behavior/neurological

limb grasping ( J:193770 )

• 35 week old mice show abnormal limb clasping reflex during tail hanging

tremors ( J:193770 )

• disturbed and tremulous hindlimb movement with tail suspension

impaired coordination ( J:193770 )

• progressive deterioration of motor function after 26 weeks of age

decreased grip strength ( J:193770 )

skeleton

kyphosis ( J:193770 )

• severe at advanced stage indicating weakness of paraspinal muscles

growth/size/body

decreased body weight ( J:193770 )

hematopoietic system

microgliosis ( J:193770 )

• at 12 weeks with few at 40 weeks of age

immune system

microgliosis ( J:193770 )

• at 12 weeks with few at 40 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amyotrophic lateral sclerosis		DOID:332	OMIM:PS105400	J:193770