Phenotypes Associated with This Genotype

Genotype
MGI:7541130

• Allelic Composition: Wwox^em1Mald/Wwox^em1Mald
• Genetic Background: FVB/N-Wwox^em1Mald

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

behavior/neurological

abnormal fear/anxiety-related behavior ( J:339564 )

• less time spent in center in open field test (OFT) and in open arms in elevated plus maze (EPM)

increased thigmotaxis ( J:339564 )

abnormal response to social novelty ( J:339564 )

• less time spent investigating novel juvenile mouse and lack of preference for spending more time with novel mouse versus familiar mouse

abnormal motor capabilities/coordination/movement ( J:339564 )

• progressive age-related loss of motor capabilities to the point of immobility

limb grasping ( J:339564 )

impaired coordination ( J:339564 )

• shorter latency to fall in rotarod test

decreased locomotor activity ( J:339564 )

• shorter distance traveled in open field test (OFT) and double latency to enter open arms in elevated plus maze (EPM)

decreased social investigation ( J:339564 )

• lack of preference for spending time with another mouse versus an empty cage

convulsive seizures ( J:339564 )

• spontaneous generalized convulsions

tonic-clonic seizures ( J:339564 )

• generalized convulsions, beginning with sudden myoclonic jerk or jump, followed by whole-body rhythmic jerking movements

endocrine/exocrine glands

enlarged gallbladder ( J:339564 )

• in some mice

growth/size/body

growth/size/body region phenotype ( J:339564 )

N • normal gross organ morphology

enlarged gallbladder ( J:339564 )

• in some mice

decreased body weight ( J:339564 )

nervous system

convulsive seizures ( J:339564 )

• spontaneous generalized convulsions

tonic-clonic seizures ( J:339564 )

• generalized convulsions, beginning with sudden myoclonic jerk or jump, followed by whole-body rhythmic jerking movements

astrocytosis ( J:339564 )

• progressive age-related astrocytosis in hippocampus

microgliosis ( J:339564 )

• progressive age-related microgliosis in hippocampus

decreased oligodendrocyte number ( J:339564 )

• in corpus callosum

• normal number in parietal cortex

Purkinje cell degeneration ( J:339564 )

thin cerebellar granule layer ( J:339564 )

• in preculminate and primary fissures between cerebellar lobules III-VI

thin cerebellar molecular layer ( J:339564 )

• in preculminate and primary fissures between cerebellar lobules III-VI

absent cerebellum fissure ( J:339564 )

• fusion of interhemispheric fissure

abnormal cerebellum vermis lobule morphology ( J:339564 )

• fusion

cerebellum atrophy ( J:339564 )

cerebellum hypoplasia ( J:339564 )

mortality/aging

premature death ( J:339564 )

• mean long-term survival of 393 days (vs 542 for WT)

hematopoietic system

microgliosis ( J:339564 )

• progressive age-related microgliosis in hippocampus

liver/biliary system

enlarged gallbladder ( J:339564 )

• in some mice

liver degeneration ( J:339564 )

• focal liver degeneration in some mice

cholestasis ( J:339564 )

• in some mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:339564 )

N • normal blood chemistry and hematological parameters

immune system

microgliosis ( J:339564 )

• progressive age-related microgliosis in hippocampus

cellular

astrocytosis ( J:339564 )

• progressive age-related astrocytosis in hippocampus

microgliosis ( J:339564 )

• progressive age-related microgliosis in hippocampus

decreased oligodendrocyte number ( J:339564 )

• in corpus callosum

• normal number in parietal cortex

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive spinocerebellar ataxia 12		DOID:0080060	OMIM:614322	J:339564