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Allele : Gaa<em1Jhng> glucosidase, alpha, acid; endonuclease-mediated mutation 1, Jeffrey Huang

Primary Identifier  MGI:6454667 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Gaa
Strain of Origin  C57BL/6NJ Is Recombinase  false
Is Wild Type  false
molecularNote  Guide RNAs (GTACGCTGGTCACTGGACAG and CTGTCCAGTGACCAGCGTAC) are designed to insert an extra adenine at position 1826 (c.1826dupA), resulting in a tyrosine change to a premature stop codon at amino acid 609 (Tyr609*). This mutation results in a truncated protein as seen in patients with Infantile Onset Pompe Disease (IOPD). Silent protospacer adjacent motif (PAM) site mutations (GaaA>, GaaA>) and a gRNA seed region mutation (GaaT>) were also introduced to prevent gRNA editing of the donor template.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Gaa<c.1826dupA>,
  • Gaa<c.1826dupA>
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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

2 Publication categories

Trail: Allele