Abca13^em1Kueda
Endonuclease-mediated Allele Detail

Summary

• Symbol: Abca13^em1Kueda
• Name: ATP-binding cassette, sub-family A member 13; endonuclease-mediated mutation 1, Kazumitsu Ueda
• MGI ID: MGI:7330391
• Gene: Abca13 Location: Chr11:9141942-9634259 bp, + strand Genetic Position: Chr11, 6.13 cM, cytoband A2
• Alliance: Abca13^em1Kueda page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated an 83 bp deletion in exon 21 leading to a premature stop codon in exon 22. Western blot analysis confirmed absence of protein in the kidney, brain, and bone marrow. (J:304162)

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 Abca13 Mutation: 297 strains or lines available

References

• Original: J:304162 Nakato M, et al., ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking. J Biol Chem. 2020 Dec 16;296:100166
• All: 1 reference(s)