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| Nomenclature |
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Symbol:
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Aipl1tm1Tili
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Name:
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aryl hydrocarbon receptor-interacting protein-like 1;
targeted mutation 1, Tiansen Li
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MGI ID: |
MGI:3054784 |
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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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Age-dependent retinal degeneration in Aipl1tm1Tili/Aipl1tm1Tili mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:92601
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A neomycin resistance gene was inserted into intron 2. Analysis of retinal mRNA indicated that transcript levels were severely reduced. Immunofloresence indicated a lower abundance of protein in the inner segment of photoreceptors of mutants. Quantification on immunoblots demonstrated that this is allele is a strong hypomorph, with the level of protein in mutants decreased to 20-25% of that for wild-type animals. (J:92601)
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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:92601
Liu X et al.,
"AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase."
Proc Natl Acad Sci U S A 2004 Sep 21;101(38):13903-8
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All: |
3 reference(s)
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Analysis Tools
