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Abca4tm1.1Rsmy
Targeted Allele Detail
Nomenclature
Symbol: Abca4tm1.1Rsmy
Name: ATP-binding cassette, sub-family A (ABC1), member 4; targeted mutation 1.1, Robert S Molday
MGI ID: MGI:6159285
Synonyms: N965S
Gene: Abca4  Location: Chr3:122044443-122180123 bp, + strand  Genetic Position: Chr3, 52.94 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:255529
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted (Humanized sequence, Hypomorph)
Mutations:    Insertion, Single point mutation
 
Mutation detailsAn A to G substitution resulting in replacement of asparagine at position 965 for a serine (N965S) was introduced in exon 19. A FRT-flanked neomycin selection cassette was inserted upstream of exon 19 (604 bp 5' to the point mutation). Flp-mediated recombination removed the neomycin cassette. This corresponds to a Stargardt disease-associated mutation in the Walker A motif of nuclear binding domain 1. Western blot analysis indicates that the amount of protein expressed in heterozygous photoreceptors is half that of wild-type mice. (J:255529)
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: 3 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 Abca4 Mutation:  7 strains or lines available
References
Original:  J:255529 Molday LL, et al., Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. Hum Mol Genet. 2018 Jan 15;27(2):295-306
All:  1 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
07/07/2020
MGI 6.15
The Jackson Laboratory