Clcn2^em1Uis
Endonuclease-mediated Allele Detail

Summary

• Symbol: Clcn2^em1Uis
• Name: chloride channel, voltage-sensitive 2; endonuclease-mediated mutation 1, Ute Scholl
• MGI ID: MGI:6849996
• Synonyms: Clcn2^R180Q
• Gene: Clcn2 Location: Chr16:20521714-20536496 bp, - strand Genetic Position: Chr16, 12.5 cM
• Alliance: Clcn2^em1Uis page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology introduced a C to T change at chr16:20,712,754 (GRCm38) resulting in an arginine to glutamine substitution at amino acid 180 (R180Q) in exon 5. The mouse R180Q is homologous to human R172Q that is commonly mutated in familial hyperaldosteronism type II. (J:282228)

Disease models

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 Clcn2 Mutation: 40 strains or lines available

References

• Original: J:282228 Schewe J, et al., Elevated aldosterone and blood pressure in a mouse model of familial hyperaldosteronism with ClC-2 mutation. Nat Commun. 2019 Nov 14;10(1):5155
• All: 1 reference(s)