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Allele : Asxl3<em1Jlp> ASXL transcriptional regulator 3; endonuclease-mediated mutation 1, Jose de la Pompa

Primary Identifier  MGI:7543632 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Asxl3
Strain of Origin  C57BL/6-Mib1<em1Jlp> Is Recombinase  false
Is Wild Type  false
molecularNote  Methionine codon 1361 (ATG) in exon 13 was changed to valine (GTC) (p.M1361V) using a crRNA (targeting TCGCCCATCGCAATGTTTGC) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.M1415V mutant (SNPs rs181303838) found in some left ventricular noncompaction (LVNC) patients. The allele was created in zygotes that contained the Mib1em1Jlp allele and created at the same time as the Apcdd1em1Jlp allele.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Asxl3<M1361V>,
  • Asxl3<M1361V>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele