IMPC phenotypes (gene matching)
- preweaning lethality, complete penetrance / IMPC
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 |
|
| 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)
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