IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
B6.Cg-Abca3tm1Holz/Ieg
| Status | Available to order |
| EMMA ID | EM:04425 |
| Citation information | RRID:IMSR_EM:04425 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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 |
|
| 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 males, wild-type C57BL/6N females |
| 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)
MGI phenotypes (gene matching)
- abnormal lung development / MGI
- atelectasis / MGI
- thick pulmonary interalveolar septum / MGI
- cyanosis / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- abnormal lipid homeostasis / MGI
- abnormal pulmonary alveolus morphology / MGI
- abnormal type II pneumocyte morphology / MGI
- abnormal surfactant secretion / MGI
- abnormal surfactant composition / MGI
- abnormal surfactant physiology / MGI
- lethargy / MGI
- renal/urinary system phenotype / MGI
- pulmonary vascular congestion / MGI
- abnormal alveolar lamellar body morphology / MGI
- absent alveolar lamellar bodies / MGI
- absent type I pneumocytes / MGI
- primary atelectasis / MGI
- abnormal lung saccule morphology / MGI
- decreased alveolar lamellar body number / MGI
- abnormal bronchiole epithelium morphology / MGI
- pulmonary alveolar hemorrhage / MGI
- neonatal lethality, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- thick lung-associated mesenchyme / MGI
- increased wet-to-dry lung weight ratio / MGI
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