Kcnh6^em2Jkya
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kcnh6^em2Jkya
• Name: potassium voltage-gated channel, subfamily H (eag-related), member 6; endonuclease-mediated mutation 2, Jin-Kui Yang
• MGI ID: MGI:6280004
• Synonyms: P235L KI
• Gene: Kcnh6 Location: Chr11:105898950-105925375 bp, + strand Genetic Position: Chr11, 68.87 cM
• Alliance: Kcnh6^em2Jkya page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a CCA to CTA mutation resulting in a proline to leucine substitution at amino acid 235 (p.P235L). (J:271003)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Kcnh6 Mutation: 50 strains or lines available

References

• Original: J:271003 Yang JK, et al., From Hyper- to Hypoinsulinemia and Diabetes: Effect of KCNH6 on Insulin Secretion. Cell Rep. 2018 Dec 26;25(13):3800-3810.e6
• All: 1 reference(s)