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Pde10atm1.1Njbr
Targeted Allele Detail
Summary
Symbol: Pde10atm1.1Njbr
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: Pde10atm1.1Njbr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:231965
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Single point mutation
 
Mutation detailsRed/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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  61 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)

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
11/12/2024
MGI 6.24
The Jackson Laboratory