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Allele : Ddc<tm1Umon> dopa decarboxylase; targeted mutation 1, Umrao Monani
Primary Identifier  MGI:6151137 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Ddc
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  The targeting construct inserted C890T base pair subsitution (S250F)) in exon 7 followied by a self-excising ACN cassette (tACE-Cre/Neo) flanked by loxP sites. The mutation was confirmed by sequencing. The second most commonly reported genetic lesion in AADC deficiency (infant Parkinsonism) is associated with a C835T missense mutation (S250F amino acid alteration) in exon 7 of the human DDC (AADC) gene.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Aadc<S250F>,
  • Aadc<S250F>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

0 Driven By

4 Publication categories





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