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Allele : Wwox<em1Mald> WW domain-containing oxidoreductase; endonuclease-mediated mutation 1, Marcelo Aldaz

Primary Identifier  MGI:7541100 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Wwox
Strain of Origin  FVB/N Is Recombinase  false
Is Wild Type  false
molecularNote  Proline codon 47 (CCG) in exon 2 was changed to threonine (ACC) (NM_019573.3:c.139_141delCCGinsACC, NP_062519.2:p.P47T) using an sgRNA (targeting CAGTGGGAACATCCGAAAACCGG) and an ssODN template with CRISPR/Cas9 technology. The mutation, located in the first WW domain of the encoded peptide, represents the same human mutation associated with autosomal recessive cerebellar ataxia with epilepsy and intellectual disability (SCAR12, MIM:614322).
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Wwox<P47T>,
  • Wwox<P47T>
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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