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Date: Tue Jan 28 2025
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Elp2
em3Bjw
MGI:6715581
Allele of
Elp2
Mus musculus
Summary
Transgenic Constructs
Genomic Variant Information
Variant Molecular Consequences
Phenotypes
Disease Associations
Allele/Variant
Elp2
em3Bjw
Species
Mus musculus
Symbol
Elp2
em3Bjw
Category
allele
Allele of gene
Elp2
Transgenic Constructs
None
Synonyms
Elp2R464W
Description
CRISPR/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.
Additional Information
Literature
Transgenic Constructs
No data available
Genomic Variant Information
No data available
Variant Molecular Consequences
Phenotypes
Disease Associations
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