Aipl1^tm1Visu
Targeted Allele Detail

Summary

• Symbol: Aipl1^tm1Visu
• Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Visvanathan Ramamurthy
• MGI ID: MGI:3054793
• Synonyms: Aipl1^-
• Gene: Aipl1 Location: Chr11:71918789-71928335 bp, - strand Genetic Position: Chr11, 43.81 cM
• Alliance: Aipl1^tm1Visu page

Progressive degeneration of photoreceptors in Aipl1^tm1Visu/Aipl1^tm1Visu mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:92617
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

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

Disease models

Expression

In Structures Affected by this Mutation:

1 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: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
• All: 11 reference(s)