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Aipl1tm1Visu
Targeted Allele Detail
Nomenclature
Symbol: Aipl1tm1Visu
Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Visvanathan Ramamurthy
MGI ID: MGI:3054793
Synonyms: Aipl1-
Gene: Aipl1  Location: Chr11:72027963-72037509 bp, - strand  Genetic Position: Chr11, 43.81 cM
Progressive degeneration of photoreceptors in Aipl1tm1Visu/Aipl1tm1Visu 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 detailsExons 2-5 were replaced with a neomycin resistance gene. RT-PCR and immunoblot of retinas demonstrated lack of transcript and protein, respectively. (J:92617)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  11 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:  9 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
07/10/2018
MGI 6.12
The Jackson Laboratory