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Adnpem1Goz
Endonuclease-mediated Allele Detail
Summary
Symbol: Adnpem1Goz
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: Adnpem1Goz page
Mutation
origin
Strain of Origin:  C57BL/6N
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory