Pik3r4^mbe
Chemically induced Allele Detail

Summary

• Symbol: Pik3r4^mbe
• Name: phosphoinositide-3-kinase regulatory subunit 4; marble
• MGI ID: MGI:6324670
• Synonyms: Mbe
• Gene: Pik3r4 Location: Chr9:105520177-105564856 bp, + strand Genetic Position: Chr9, 56.79 cM, cytoband F1
• Alliance: Pik3r4^mbe page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: The causative mutation is a T-to-A substitution in the intron upstream of exon 4 of Vps15 (GRCm38p4, chr9: 105,650,312). The T-to-A mutation creates a novel splice acceptor site, which is predicted to introduce a premature stop codon resulting in a truncated protein of 289 amino acids. (J:258027)

Expression

In Structures Affected by this Mutation:

2 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 Pik3r4 Mutation: 62 strains or lines available

References

• Original: J:258027 Gstrein T, et al., Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans. Nat Neurosci. 2018 Feb;21(2):207-217
• All: 1 reference(s)