Plaa^em1Pmi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Plaa^em1Pmi
• Name: phospholipase A2, activating protein; endonuclease-mediated mutation 1, Pleasantine Mill
• MGI ID: MGI:5828117
• Synonyms: Plaa^G23V
• Gene: Plaa Location: Chr4:94455751-94491481 bp, - strand Genetic Position: Chr4, 43.34 cM
• Alliance: Plaa^em1Pmi page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas technology introduced nucleotide substitutions that result in the amino acid substitution of valine for glycine at position 23 (p.Gly23Val). This mutation is associated with disease in human patients. Western blots show a 70% reduction in protein expression from this allele. (J:240526)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Plaa Mutation: 47 strains or lines available

References

• Original: J:240526 Hall EA, et al., PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. Am J Hum Genet. 2017 May 4;100(5):706-724
• All: 1 reference(s)