Pde10atm1.1Njbr
Targeted Allele Detail
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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
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Alliance: |
Pde10atm1.1Njbr page
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Germline Transmission: |
Earliest citation of germline transmission:
J:231965
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Parent Cell Line: |
Bruce 4 (ES Cell)
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Strain of Origin: |
B6.Cg-Thy1a
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Allele Type: |
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Targeted (Not Applicable) |
Mutations: |
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Insertion, Single point mutation
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Pde10a Mutation: |
61 strains or lines available
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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) |
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