Phenotypes Associated with This Genotype

Genotype
MGI:3055190

• Allelic Composition: Pla2g6^tm1Turk/Pla2g6^tm1Turk
• Genetic Background: involves: 129X1/SvJ

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

cellular

asthenozoospermia ( J:92835 )

♂ • motility is reduced to about 5% that of wild-type spermatozoa

nervous system

neurodegeneration ( J:131429 )

• age dependend accumulation of spheroids, containing tubulovesicular membranes and ubiquinated protein, is found in some regions of the brain as early as 4 months of age and eventually spheroids are found throughout the neuropil in nearly all regions of the brain as well as areas of the peripheral nervous system, with spheroids developing in the superior mesenteric and celiac ganglia, the axon terminals innervating the carotid body, and the gracile and cuneate nuclei but not the superior cervical ganglion

• histology shows spheroids most abundant in striatum, cerebellum, and dorsal column nuclei at 4 months and with age spheroid density increases and distribution becomes more widespread to include nearly all cortical, subcortical, and brainstem regions and the spinal cord gray matter

behavior/neurological

increased exploration in new environment ( J:131429 )

• increased spontaneous activity measured during 1 hour in a new environment with the greatest increase being within the first two 10 minute periods indicative of increased exploration behavior

abnormal motor coordination/balance ( J:131429 )

• at 4 months of age homozygotes perform normally in rotarod tests, but by 13 months of age they have diminished performance on stationary, constant speed, and accelarating speed conditions although improved performance across time shows some motor learning capabilities

• at 13 months of age homozygotes are impaired in their ability to remain on a narrow plexiglass ledge or small circular platform, take longer to turn and climb to the top of a 90 degree inclined screen, and remain upside down on an inverted screen for significantly less time than wildtype controls indicating reduced motor co-ordination and strength

impaired coordination ( J:131429 )

abnormal locomotor coordination ( J:131429 )

• although motor coordination in younger mice appears normal, after 12 months of age the gait becomes uncoordinated with an increased side-to-side body sway and increased difficulty in rearing and climbing

impaired limb coordination ( J:131429 )

abnormal gait ( J:131429 )

reproductive system

asthenozoospermia ( J:92835 )

♂ • motility is reduced to about 5% that of wild-type spermatozoa

reduced male fertility ( J:92835 )

♂ • males but not females have reduced fertility, siring about 7% of the number of pups sired by wild-type males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodegeneration with brain iron accumulation 2a		DOID:0110735	OMIM:256600	J:131429