Pak3^tm1.1Rpo
Targeted Allele Detail

Summary

• Symbol: Pak3^tm1.1Rpo
• Name: p21 (RAC1) activated kinase 3; targeted mutation 1.1, Roseline Poirier
• MGI ID: MGI:6466590
• Synonyms: Pak3-R67C
• Gene: Pak3 Location: ChrX:142301587-142580792 bp, + strand Genetic Position: ChrX, 64.5 cM
• Alliance: Pak3^tm1.1Rpo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:292116
• Parent Cell Line: MCI (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A C to T (CGC>TGC) change (g.143709671C>T) resulting in an arginine to cysteine substitution at amino acid 67 was introduced in the second coding exon. A loxP flanked neomycin resistance gene was inserted downstream of exon 2. Cre-mediated recombination removed the selection cassette. RT-PCR and Western blot analysis confirmed mRNA and protein expression in the brain. (J:292116)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Pak3 Mutation: 24 strains or lines available

References

• Original: J:292116 Castillon C, et al., The intellectual disability PAK3 R67C mutation impacts cognitive functions and adult hippocampal neurogenesis. Hum Mol Genet. 2020 Jul 29;29(12):1950-1968
• All: 1 reference(s)