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| Nomenclature |
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Symbol:
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Aipl1tm1Mad
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Name:
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aryl hydrocarbon receptor-interacting protein-like 1;
targeted mutation 1, Michael A Dyer
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MGI ID: |
MGI:3524971 |
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Synonyms: |
Aipl1-, Aipl1h |
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Gene:
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Aipl1
Location:
Chr11:72027963-72037509 bp, - strand
Genetic Position: Chr11,
43.81 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:94655
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neo replaced exons 1 and 2, which contain the start codon and a portion of the sequence encoding the first TPR motif. Western blot confirmed that the mutation results in a null protein. Real time PCR and microarray hybridization of retinal cDNA further showed that mRNA was reduced in mutant retinae. (J:94655)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Aipl1 Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:94655
Dyer MA et al.,
"Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis."
Brain Res Mol Brain Res 2004 Dec 20;132(2):208-20
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All: |
3 reference(s)
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