Arl2bp^em1Visu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Arl2bp^em1Visu
• Name: ADP-ribosylation factor-like 2 binding protein; endonuclease-mediated mutation 1, Visvanathan Ramamurthy
• MGI ID: MGI:6376642
• Gene: Arl2bp Location: Chr8:95393228-95401053 bp, + strand Genetic Position: Chr8, 46.65 cM, cytoband C5
• Alliance: Arl2bp^em1Visu page

Mutation origin

• Strain of Origin: FVB/N

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated an 8 bp deletion in exon 2 that causes a frameshift mutation and leads to premature termination. Western blot analysis on retinal lysates confirmed absence of protein in homozygotes. (J:280811)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Arl2bp Mutation: 9 strains or lines available

References

• Original: J:280811 Moye AR, et al., ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure. Mol Biol Cell. 2018 Jul 1;29(13):1590-1598
• All: 3 reference(s)