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Ddctm1Umon
Targeted Allele Detail
Summary
Symbol: Ddctm1Umon
Name: dopa decarboxylase; targeted mutation 1, Umrao Monani
MGI ID: MGI:6151137
Synonyms: AadcS250F
Gene: Ddc  Location: Chr11:11764101-11848144 bp, - strand  Genetic Position: Chr11, 7.09 cM, cytoband A1-A4
Alliance: Ddctm1Umon page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:250494
Parent Cell Line:  MM13 (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe 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. (J:250494)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ddc Mutation:  126 strains or lines available
References
Original:  J:250494 Caine C, et al., A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency. Hum Mol Genet. 2017 Nov 15;26(22):4406-4415
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory