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Aipl1tm1Tili
Targeted Allele Detail
Nomenclature
Symbol: Aipl1tm1Tili
Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Tiansen Li
MGI ID: MGI:3054784
Synonyms: Aipl1-, Aipl1h
Gene: Aipl1  Location: Chr11:72027963-72037509 bp, - strand  Genetic Position: Chr11, 43.81 cM
Age-dependent retinal degeneration in Aipl1tm1Tili/Aipl1tm1Tili mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:92601
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
 
Mutation detailsA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Aipl1 Mutation:  0 strains or lines available
References
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
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory