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Abca4tm2.1Kpal
Targeted Allele Detail
Nomenclature
Symbol: Abca4tm2.1Kpal
Name: ATP-binding cassette, sub-family A (ABC1), member 4; targeted mutation 2.1, Krzysztof Palczewski
MGI ID: MGI:5752222
Synonyms: Abca4PV
Gene: Abca4  Location: Chr3:122044443-122180123 bp, + strand  Genetic Position: Chr3, 52.94 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:221141
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129 or C57BL/6
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsIn consecutive targeting events an L541P mutation was introduced in exon 12 followed by an A1038V mutation introduced in exon 21. After recombinase mediated removal of selection cassettes a loxP site was left in intron 11 and loxP and FRT sites were left in intron 22. (J:221141)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:221141 Zhang N, et al., Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Hum Mol Genet. 2015 Jun 1;24(11):3220-37
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)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory