Ddc^tm1Umon
Targeted Allele Detail

Summary

• Symbol: Ddc^tm1Umon
• Name: dopa decarboxylase; targeted mutation 1, Umrao Monani
• MGI ID: MGI:6151137
• Synonyms: Aadc^S250F
• Gene: Ddc Location: Chr11:11764101-11848144 bp, - strand Genetic Position: Chr11, 7.09 cM, cytoband A1-A4
• Alliance: Ddc^tm1Umon 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 details: 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. (J:250494)

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: 127 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)