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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pla2g6m1Sein
mutation 1, Ken-ichiro Seino
MGI:4361203
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pla2g6m1Sein/Pla2g6m1Sein C57BL/6JJcl-Pla2g6m1Sein MGI:4415286


Genotype
MGI:4415286
hm1
Allelic
Composition
Pla2g6m1Sein/Pla2g6m1Sein
Genetic
Background
C57BL/6JJcl-Pla2g6m1Sein
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pla2g6m1Sein mutation (1 available); any Pla2g6 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes die by 4 months of age (J:153195)
• mice die before 18 weeks of age (J:155328)

behavior/neurological
• at 7 to 8 weeks, all mice exhibit abnormal movement unlike wild-type mice
• motor impairments worsen with age
• homozygotes have a progressive impairment of motor function
• severe prior to 10 weeks of age
• at 7 weeks, mice exhibit impaired performance in a hanging grip test compared with wild-type mice
• after 10 weeks, mice cannot hold their body on an inverted plate unlike wild-type mice
• at 12 weeks, mice drag their hindlimbs unlike wild-type mice

nervous system
• homozygotes show accumulation of spheroids, axonal swelling, and ubiquitin-positive granular deposits in brain stem gracile nuclei, cerebellar white mater, spinal cord and peripheral nerves (J:153195)
• at 16 weeks, mice exhibit spheroids in gracile and cuneate nuclei of the brainstem, cerebral cortex, thalamus, substantia nigra, trigeminal motor nucleus, cerebellar dentate nucleus, lumbar spinal anterior horn, lumbar corticospinal tract, and lumbar posterior funiculus unlike in wild-type mice (J:155328)
• astrocytes taken from 6 to 8 week old homozygotes and cultured for 14 to 16 days have diminished ATP-stimulated calcium signalling with capacitative calcium entry in these astrocytes reduced by 43% compared with controls

muscle
• in the hindlimb

immune system

growth/size/body
• mice become emaciated as they age

hematopoietic system

Mouse Models of Human Disease
OMIM ID Ref(s)
Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A 256600 J:155328





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory