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Aipl1tm1Mad
Targeted Allele Detail
Summary
Symbol: Aipl1tm1Mad
Name: aryl hydrocarbon receptor-interacting protein-like 1; targeted mutation 1, Michael A Dyer
MGI ID: MGI:3524971
Synonyms: Aipl1-, Aipl1h
Gene: Aipl1  Location: Chr11:71918789-71928335 bp, - strand  Genetic Position: Chr11, 43.81 cM
Alliance: Aipl1tm1Mad page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94655
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
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: 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:  29 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory