Pde10a^tm1.1Njbr
Targeted Allele Detail

Summary

• Symbol: Pde10a^tm1.1Njbr
• Name: phosphodiesterase 10A; targeted mutation 1.1, Nicholas J Brandon
• MGI ID: MGI:5823061
• Gene: Pde10a Location: Chr17:8744204-9205480 bp, + strand Genetic Position: Chr17, 4.96 cM
• Alliance: Pde10a^tm1.1Njbr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:231965
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Red/ET recombineering was used to target a loxP-flanked neomycin cassette into intron 4 along with the TAT:TGT codon mutation in exon 4, resulting in tyrosine to cysteine amino acid substitution at position 97 (Tyr97Cys) which is homologous to the human p.Tyr107Cys variant. Cre-mediated recombination removed the neomycin cassette. Western blot analysis indicates reduced levels of protein in the striatum. (J:231965)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pde10a Mutation: 60 strains or lines available

References

• Original: J:231965 Diggle CP, et al., Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016 Apr 7;98(4):735-43
• All: 1 reference(s)