Abcc9^em1Nich
Endonuclease-mediated Allele Detail

Summary

• Symbol: Abcc9^em1Nich
• Name: ATP-binding cassette, sub-family C member 9; endonuclease-mediated mutation 1, Colin G Nichols
• MGI ID: MGI:6389010
• Synonyms: SUR2^AV
• Gene: Abcc9 Location: Chr6:142533588-142648041 bp, - strand Genetic Position: Chr6, 74.35 cM
• Alliance: Abcc9^em1Nich page

Mutation origin

• Strain of Origin: (C57BL/6J x CBA/J)F2

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology using gRNA 5' CATTGCCACGAAGCTGGC-GG 3' introduced a C to T change at position 1427 resulting in an alanine to valine substitution at amino acid 476 (A476V). This corresponds to the human A478V mutation associated with Cantu Syndrome. (J:281903)

Disease models

Expression

In Structures Affected by this Mutation:

10 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:281903 Huang Y, et al., Cardiovascular consequences of KATP overactivity in Cantu syndrome. JCI Insight. 2018 Aug 9;3(15)
• All: 4 reference(s)