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Elp2em3Bjw
Endonuclease-mediated Allele Detail
Summary
Symbol: Elp2em3Bjw
Name: elongator acetyltransferase complex subunit 2; endonuclease-mediated mutation 3, Brandon J Wainwright
MGI ID: MGI:6715581
Synonyms: Elp2R464W
Gene: Elp2  Location: Chr18:24737018-24771887 bp, + strand  Genetic Position: Chr18, 13.18 cM
Alliance: Elp2em3Bjw page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsCRISPR/Cas9 technology generated an arginine to tryptophan substitution at amino acid 464 (R464W). This is a variant seen in individuals with features of developmental delay, intellectual disability and autism spectrum disorder. (J:306113)
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: 5 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 Elp2 Mutation:  42 strains or lines available
References
Original:  J:306113 Kojic M, et al., Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype. Nat Commun. 2021 May 11;12(1):2678
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
06/12/2024
MGI 6.13
The Jackson Laboratory