Aipl1^tm1Tili
Targeted Allele Detail

Summary

• Symbol: Aipl1^tm1Tili
• Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Tiansen Li
• MGI ID: MGI:3054784
• Synonyms: Aipl1^-, Aipl1^h
• Gene: Aipl1 Location: Chr11:71918789-71928335 bp, - strand Genetic Position: Chr11, 43.81 cM
• Alliance: Aipl1^tm1Tili page

Age-dependent retinal degeneration in Aipl1^tm1Tili/Aipl1^tm1Tili 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 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)

Disease models

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: 30 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: 4 reference(s)