Pla2g6^m1Sein
Chemically induced Allele Detail

Summary

• Symbol: Pla2g6^m1Sein
• Name: phospholipase A2, group VI; mutation 1, Ken-ichiro Seino
• MGI ID: MGI:4361203
• Synonyms: Pla2g6^inad
• Gene: Pla2g6 Location: Chr15:79170428-79212590 bp, - strand Genetic Position: Chr15, 37.7 cM
• Alliance: Pla2g6^m1Sein page

Mutation origin

• Strain of Origin: C57BL/6JJcl

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU induced an G to T transition at position 1117 bp that results in an amino acid substitution of arginine for glycine at position 373 (G373R). This mutation is found in patients with infantile neuroaxonal dystrophy. (J:155328)
• Inheritance: Recessive

Disease models

Expression

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Pla2g6 Mutation: 67 strains or lines available

References

• Original: J:153195 Watabe K, et al., A mouse model for infantile neuroaxonal dystrophy with PLA2G6 mutation generated by ENU-mutagenesis. Neuropathology. 2008;28:184 (O-1-A11 Abstr.)
• All: 3 reference(s)