Ehd1^em1Tkato
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ehd1^em1Tkato
• Name: EH-domain containing 1; endonuclease-mediated mutation 1, Tadafumi Kato
• MGI ID: MGI:7258303
• Gene: Ehd1 Location: Chr19:6326926-6350126 bp, + strand Genetic Position: Chr19, 4.4 cM
• Alliance: Ehd1^em1Tkato page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 1-bp deletion into exon 5. This corresponds to a de novo frameshift mutation (chr11:64621996delC) identified in an individual with bipolar disorder. Western blot analysis confirmed expression of a truncated protein in the hippocampus. (J:322318)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ehd1 Mutation: 39 strains or lines available

References

• Original: J:322318 Nakamura T, et al., Functional and behavioral effects of de novo mutations in calcium-related genes in patients with bipolar disorder. Hum Mol Genet. 2021 Sep 15;30(19):1851-1862
• All: 1 reference(s)