Abcc9^em2Nich
Endonuclease-mediated Allele Detail

Summary

• Symbol: Abcc9^em2Nich
• Name: ATP-binding cassette, sub-family C member 9; endonuclease-mediated mutation 2, Colin G Nichols
• MGI ID: MGI:6389242
• Synonyms: SUR2^STOP, SUR2-STOP¹¹⁴⁹
• Gene: Abcc9 Location: Chr6:142533588-142648041 bp, - strand Genetic Position: Chr6, 74.35 cM
• Alliance: Abcc9^em2Nich page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA/J)F1

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 5 bp deletion (ACTTC) and a 2 bp insertion (GA) at position 3446-3450 (c.3446_3450delACTTCinsGA) resulting in the introduction of a premature stop codon at tyrosine 1149 (Y1149STOP). (J:281630)

Expression

In Structures Affected by this Mutation:

5 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 Abcc9 Mutation: 101 strains or lines available

References

• Original: J:281630 Smeland MF, et al., ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9. Nat Commun. 2019 Oct 1;10(1):4457
• All: 3 reference(s)