Phenotypes Associated with This Genotype

Genotype
MGI:5317923

• Allelic Composition: Pla2g6^m1J/Pla2g6^m1J
• Genetic Background: C3H/HeJ-Pla2g6^m1J

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

nervous system

neurodegeneration ( J:183152 )

abnormal astrocyte physiology ( J:183152 )

• astrocytes taken from 6 to 8 week old homozygotes and cultured for 14 to 16 days have diminished ATP-stimulated calcium signaling with capacitative calcium entry in these astrocytes found to be only 45% that of controls

behavior/neurological

tremors ( J:183152 )

• the first outward sign of disease is a slight tremor at approximately 50 days of age

decreased grip strength ( J:183152 )

• grip strength, assessed by the ability to hang suspended on a wire, decreases by 60-80 days and by 100 days homozygotes can no longer suspend their weight for more than a few seconds

growth/size/body

weight loss ( J:183152 )

• Gradual weight loss begins at approximately 90 days of age and continues until premature death

mortality/aging

premature death ( J:183152 )

• homozygotes rarely survive beyond 6 month and there is only 50% survival at approximately 120 days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodegeneration with brain iron accumulation 2a		DOID:0110735	OMIM:256600	J:183152