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Ahi1tm1Rujf
Targeted Allele Detail
Summary
Symbol: Ahi1tm1Rujf
Name: Abelson helper integration site 1; targeted mutation 1, Russell J Ferland
MGI ID: MGI:4360696
Gene: Ahi1  Location: Chr10:20828446-20956328 bp, + strand  Genetic Position: Chr10, 9.75 cM, cytoband A3
Alliance: Ahi1tm1Rujf page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:152919
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 3 through 6 were replaced with a lacZ/neo cassette. The absence of protein expression was confirmed by western blot analysis on brain extracts. (J:152919)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 38 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ahi1 Mutation:  80 strains or lines available
References
Original:  J:152919 Hsiao YC, et al., Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet. 2009 Oct 15;18(20):3926-41
All:  9 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
05/21/2024
MGI 6.23
The Jackson Laboratory