IMPC phenotypes (gene matching)
B6.129S(C)-Cert1tm1.1Jsau/Cnbc
| Status | Available to order |
| EMMA ID | EM:05253 |
| 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, homozygous C57BL/6J |
| 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