Abcc9^em3Nich
Endonuclease-mediated Allele Detail

Summary

• Symbol: Abcc9^em3Nich
• Name: ATP-binding cassette, sub-family C member 9; endonuclease-mediated mutation 3, Colin G Nichols
• MGI ID: MGI:6822330
• Synonyms: SUR2^RQ
• Gene: Abcc9 Location: Chr6:142533588-142648041 bp, - strand Genetic Position: Chr6, 74.35 cM
• Alliance: Abcc9^em3Nich page

Mutation origin

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

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology introduced a G to A change at position 3452 (c.3452G>A) resulting in an arginine to glutamine substitution at residue 1151 (p.R1151Q) corresponding to the most common gain of function human R1154Q mutation seen in individuals with Catnu syndrome. Unexpected mRNA splicing leads to an in-frame deletion of exon 28 and loss of functional protein. (J:308986)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:308986 Zhang H, et al., Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice. JCI Insight. 2021 Mar 8;6(5)
• All: 1 reference(s)