IMPC phenotypes (gene matching)
B6.129S(C)-Cert1tm1.1Jsau/Cnbc
| Status | Available to order |
| EMMA ID | EM:05253 |
| Citation information | RRID:IMSR_EM:05253 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 | B6.129S(C)-Cert1tm1.1Jsau/Cnbc |
| Alternative name | B6-GPBP-1 -/- |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Cert1tm1.1Jsau |
| Gene/Transgene symbol | Cert1 |
Information from provider
| Provider | Juan Saus |
| Provider affiliation | Laboratory of Autoimmune Pathology, Centro de Investigación Príncipe Felipe |
| Genetic information | The Cert1 (Col4a3bp) gene expresses the goodpasture antigen-binding proteins (GPBP), also known as ceramide transfer protein (CERT), as two alternatively spliced isoforms: 1) GPBP-1 or CERT-L and 2) GPBP-2 or CERT, which lacks exon XI (present in GPBP-1). B6-GPBP-1 KO/KO mice express only GPBP-2/CERT but not GPBP-1, since exon XI has been deleted. |
| Phenotypic information | There is no evident phenotype in this strain. |
| Breeding history | To knock-out mouse GPBP-1 expression, previously obtained (neo+/loxP+) 129/SvEv ES cells transfected with a suitable replacement vector, were injected into C57BL/6 blastocysts. The resulting chimeric mice were further crossed to obtain homozygous (neo+/loxP+) mice, that were crossed with transgenic BALB/c-Tg(CMV-cre)1Cgn/J mice, expressing cre recombinase. Littermates were analyzed to test deletion of Cert1 (Col4a3bp) exon XI. Then, heterozygous +/- mice for mGPBP-1 were backcrossed with C57BL/6J mice until a near homogenous C57BL/6J background was achieved, according to SNP analysis. Later, homozygous -/- mGPBP-1 mice were obtained and they are currently maintained as an inbred colony. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | yes |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6J males, homozygous C57BL/6J females |
| Stage of embryos | 8-cell |
Disease and phenotype information
MGI phenotypes (gene matching)
- abnormal heart morphology / MGI
- thin ventricular wall / MGI
- double outlet right ventricle / MGI
- decreased cell proliferation / MGI
- abnormal muscle development / MGI
- abnormal forebrain morphology / MGI
- abnormal cardiovascular system physiology / MGI
- decreased embryo size / MGI
- abnormal lipid homeostasis / MGI
- abnormal nasal cavity morphology / MGI
- abnormal semicircular canal morphology / MGI
- persistent truncus arteriosis / MGI
- absent tibia / MGI
- no phenotypic analysis / MGI
- aphakia / MGI
- fetal growth retardation / MGI
- abnormal optic cup morphology / MGI
- abnormal vertebral arch morphology / MGI
- fusion of vertebral bodies / MGI
- fusion of vertebral arches / MGI
- decreased cervical vertebrae number / MGI
- homeostasis/metabolism phenotype / MGI
- cellular phenotype / MGI
- reproductive system phenotype / MGI
- decreased ventricle muscle contractility / MGI
- abnormal cell physiology / MGI
- abnormal mitochondrion morphology / MGI
- abnormal mitochondrial physiology / MGI
- abnormal cardiac outflow tract development / MGI
- increased heart ventricle size / MGI
- abnormal cervical rib / MGI
- abnormal endoplasmic reticulum morphology / MGI
- abnormal cardiac jelly morphology / MGI
- perimembraneous ventricular septal defect / MGI
- muscular ventricular septal defect / MGI
- abnormal pectinate muscle morphology / MGI
- persistent right dorsal aorta / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- abnormal umbilical vein topology / MGI
- abnormal vertebral artery topology / MGI
- heterochrony / MGI
- persistent trigeminal artery / MGI
Literature references
- Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen.;Raya A, Revert F, Navarro S, Saus J, ;1999;The Journal of biological chemistry;274;12642-9; 10212244
- Goodpasture antigen-binding protein, the kinase that phosphorylates the goodpasture antigen, is an alternatively spliced variant implicated in autoimmune pathogenesis.;Raya A, Revert-Ros F, Martinez-Martinez P, Navarro S, Rosello E, Vieites B, Granero F, Forteza J, Saus J, ;2000;The Journal of biological chemistry;275;40392-9; 11007769
- Increased Goodpasture antigen-binding protein expression induces type IV collagen disorganization and deposit of immunoglobulin A in glomerular basement membrane.;Revert Fernando, Merino Ramón, Monteagudo Carlos, Macias Jesús, Peydró Amando, Alcácer Javier, Muniesa Pedro, Marquina Regina, Blanco Mario, Iglesias Marcos, Revert-Ros Francisco, Merino Jesús, Saus Juan, ;2007;The American journal of pathology;171;1419-30; 17916599
- Goodpasture antigen-binding protein (GPBP) directs myofibril formation: identification of intracellular downstream effector 130-kDa GPBP-interacting protein (GIP130).;Revert-Ros Francisco, López-Pascual Ernesto, Granero-Moltó Froilán, Macías Jesús, Breyer Richard, Zent Roy, Hudson Billy G, Saadeddin Anas, Revert Fernando, Blasco Raül, Navarro Carmen, Burks Deborah, Saus Juan, ;2011;The Journal of biological chemistry;286;35030-43; 21832087