Adnp^em1Goz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adnp^em1Goz
• Name: activity-dependent neuroprotective protein; endonuclease-mediated mutation 1, Illana Gozes
• MGI ID: MGI:7867540
• Synonyms: Tyr
• Gene: Adnp Location: Chr2:168022906-168049032 bp, - strand Genetic Position: Chr2, 88.41 cM
• Alliance: Adnp^em1Goz 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 T to A change at position 2154 (c.2154T>A) resulting in a stop codon at tyrosine 718 (p.Tyr718*). This corresponds to the most common Helsmoortel-van der Aa syndrome (also called ADNP syndrome) mutation p.Tyr719* in humans. The mutation truncates the protein inside the nuclear localization sequence so it lacks the nuclear localization signal. (J:361953)

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 Adnp Mutation: 96 strains or lines available

References

• Original: J:361953 Karmon G, et al., Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies. Biol Psychiatry. 2022 Jul 1;92(1):81-95
• All: 1 reference(s)