Abca3^tm1Holz
Targeted Allele Detail

Summary

• Symbol: Abca3^tm1Holz
• Name: ATP-binding cassette, sub-family A member 3; targeted mutation 1, Andreas Holzinger
• MGI ID: MGI:3716562
• Synonyms: Abca3^-
• Gene: Abca3 Location: Chr17:24570997-24629178 bp, + strand Genetic Position: Chr17, 12.38 cM, cytoband A3.3
• Alliance: Abca3^tm1Holz page

Mutation origin

• 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

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Abca3 Mutation: 92 strains or lines available

References

• 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)