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Allele : Ube3a<em1Mjz> ubiquitin protein ligase E3A; endonuclease-mediated mutation 1, Mark Zylka

Primary Identifier  MGI:7520304 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Ube3a
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  Threonine codon 503 (ACT) in exon 6 was changed to alanine (GCA) (NP_001380595.1:p.T503A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human NP_570853.1:p.T485A gain-of-function mutation associated with autism when expressed from the paternal allele.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Ube3a<T503A>,
  • Ube3a<T503A>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories