Arfgef1^em3Frk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Arfgef1^em3Frk
• Name: ADP ribosylation factor guanine nucleotide exchange factor 1; endonuclease-mediated mutation 3, Wayne Frankel
• MGI ID: MGI:6472641
• Synonyms: Arfgeg1^fs
• Gene: Arfgef1 Location: Chr1:10207796-10302895 bp, - strand Genetic Position: Chr1, 2.36 cM
• Alliance: Arfgef1^em3Frk page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: A guide RNA is designed to introduce 4 nucleotide frameshift mutation in exon 30 resulting in a premature stop codon. Antibodies designed to detect N-terminal epitopes did not detect protein in whole brain lysate. (J:296848)

Expression

In Mice Carrying this Mutation:

10 assay results

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 Arfgef1 Mutation: 104 strains or lines available

References

• Original: J:296848 Teoh J, et al., Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors. Neurobiol Dis. 2020 Feb;134:104632
• All: 1 reference(s)