About   Help   FAQ
Abca5tm1Akya
Targeted Allele Detail
Summary
Symbol: Abca5tm1Akya
Name: ATP-binding cassette, sub-family A member 5; targeted mutation 1, Akihito Yamaguchi
MGI ID: MGI:3581814
Synonyms: Abca5-
Gene: Abca5  Location: Chr11:110160195-110228542 bp, - strand  Genetic Position: Chr11, 73.53 cM
Alliance: Abca5tm1Akya page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:99152
Parent Cell Line:  TT2 (ES Cell)
Strain of Origin:  (C57BL/6NCrlj x CBA/JNCrlj)F1
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion of a neo cassette disrupted the region encoding the Walker A motif of NBD2, exon 31 and parts of exons 30 and 32. (J:99152)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 8 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Abca5 Mutation:  84 strains or lines available
References
Original:  J:99152 Kubo Y, et al., ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms. (Correction: v.25(13):5786). Mol Cell Biol. 2005 May;25(10):4138-49
All:  2 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory