Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Pla2g6m1Sein
Name:	phospholipase A2, group VI; mutation 1, Ken-ichiro Seino
MGI ID:	MGI:4361203
Synonyms:	Pla2g6inad
Gene:	Pla2g6  Location: Chr15:79170428-79212590 bp, - strand  Genetic Position: Chr15, 37.7 cM
Alliance:	Pla2g6m1Sein page

Strain of Origin:

C57BL/6JJcl

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

8 anatomical structure(s)

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:	65 strains or lines available

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)