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| Nomenclature |
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Symbol:
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Aipl1tm1Visu
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Name:
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aryl hydrocarbon receptor-interacting protein-like 1;
targeted mutation 1, Visvanathan Ramamurthy
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MGI ID: |
MGI:3054793 |
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Synonyms: |
Aipl1- |
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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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Progressive degeneration of photoreceptors in mice lacking Aipl1
Show the 2 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:92617
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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: Exons 2-5 were replaced with a neomycin resistance gene. RT-PCR and immunoblot of retinas demonstrated lack of transcript and protein, respectively. (J:92617)
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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:92617
Ramamurthy V et al.,
"Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase."
Proc Natl Acad Sci U S A 2004 Sep 21;101(38):13897-902
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All: |
4 reference(s)
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