Aipl1^tm1Mad
Targeted Allele Detail

Summary

• Symbol: Aipl1^tm1Mad
• Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Michael A Dyer
• MGI ID: MGI:3524971
• Synonyms: Aipl1^-, Aipl1^h
• Gene: Aipl1 Location: Chr11:71918789-71928335 bp, - strand Genetic Position: Chr11, 43.81 cM
• Alliance: Aipl1^tm1Mad page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94655
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: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
• All: 5 reference(s)