B6.Cg-Abca3tm1Holz/Ieg
Status | Available to order |
EMMA ID | EM:04425 |
International strain name | B6.Cg-Abca3tm1Holz/Ieg |
Alternative name | Abca3tm1Holz |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Abca3tm1Holz, |
Gene/Transgene symbol | Abca3 |
Information from provider
Provider | Andreas Holzinger |
Provider affiliation | Kinderklinik, Molekulare Neonatologie, Klinikum der LMU Muenchen |
Additional owner | Strain owned (50% each) by Andreas Holzinger, LMU München and Martin Hrabé de Angelis, Helmholtz-zentrum München |
Genetic information | Exons 5 (partially) to 7 (partially) of the Abca3 gene are deleted and replaced by (5' to 3') an IRES, humanized Renilla green fluorescent protein (hrGFP) cDNA and a neomycin expression cassette. The neo cassette is flanked by loxP sites but still retained in this mouse line. |
Phenotypic information | Homozygosity is associated with neonatal respiratory failure due to a disturbance in pulmonary surfactant homeostasis. Heterozygous mice are apparently healthy but do display abnormalities in biochemical analyses and challenge tests. |
Breeding history | Backcrossed to C57BL/6 over at least 10 generations. |
References |
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Homozygous fertile | yes |
Homozygous viable | no |
Homozygous matings required | no |
Immunocompromised | no |
Information from EMMA
Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Animals used for archiving | heterozygous C57BL/6N, wild-type C57BL/6N |
Stage of embryos | 2-cell |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Interstitial lung disease due to ABCA3 deficiency / Orphanet_440402
MGI phenotypes (allele matching)
Literature references
- Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.;Hammel Markus, Michel Geert, Hoefer Christina, Klaften Matthias, Müller-Höcker Josef, de Angelis Martin Hrabé, Holzinger Andreas, ;2007;Biochemical and biophysical research communications;359;947-51; 17577581
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