Cdh2^em1Obir
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cdh2^em1Obir
• Name: cadherin 2; endonuclease-mediated mutation 1, Ohad S Birk
• MGI ID: MGI:7432734
• Synonyms: Cdh2^H150Y(1)
• Gene: Cdh2 Location: Chr18:16721934-16942303 bp, - strand Genetic Position: Chr18, 10.1 cM
• Alliance: Cdh2^em1Obir page

Mutation origin

• Strain of Origin: C57BL/6JRcc

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a histidine to tyrosine substitution at amino acid 150. This corresponds to the human pathogenic mutation His150Tyr (p.H150Y) identified in attention-deficit hyperactivity disorder. (J:331911)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Cdh2 Mutation: 51 strains or lines available

References

• Original: J:331911 Halperin D, et al., CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice. Nat Commun. 2021 Oct 26;12(1):6187
• All: 1 reference(s)