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Targeted Allele Detail
Symbol: Abca3tm1Holz
Name: ATP-binding cassette, sub-family A (ABC1), member 3; targeted mutation 1, Andreas Holzinger
MGI ID: MGI:3716562
Synonyms: Abca3-
Gene: Abca3  Location: Chr17:24351950-24410201 bp, + strand  Genetic Position: Chr17, 12.38 cM, cytoband A3.3
Germline Transmission:  Earliest citation of germline transmission: J:122736
Parent Cell Line:  IDG3.2 (ES Cell)
Strain of Origin:  (C57BL/6J x 129S6/SvEvTac)F1
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 2171-bp SacI/SacII DNA restriction fragment encompassing the 3' end of exon 5 through the 5' end of exon 7 was replaced by an internal ribosomal entry site (IRES) followed by the coding sequence for humanized Renilla green fluorescent protein (hrGFP) and a loxP-flanked neomycin resistance (PGK1-neo) cassette. RT-PCR using primers within the deleted sequence detect no transcript in homozygous mutant lung; using primers from a non-deleted region reveals only trace amounts of mRNA. Absence of the endogenous protein was confirmed by immunohistochemistry of mutant lung tissue. No hrGFP protein is detected by fluorescence confocal microscopy, immunoblot or immuhohistochemical analysis using antibodies to hrGFP. (J:122736)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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 Abca3 Mutation:  47 strains or lines available
Original:  J:122736 Hammel M, et al., Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies. Biochem Biophys Res Commun. 2007 Aug 10;359(4):947-951
All:  2 reference(s)

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MGI 6.11
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