IMPC phenotypes (gene matching)
B6.129P2-Plxnb2tm1Matl/Ieg
| Status | Available to order |
| EMMA ID | EM:03098 |
| Citation information | RRID:IMSR_EM:03098 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 | B6.129P2-Plxnb2tm1Matl/Ieg |
| Alternative name | Plexin-B2 KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Plxnb2tm1Matl |
| Gene/Transgene symbol | Plxnb2 |
Information from provider
| Provider | Roland Friedel |
| Provider affiliation | Soriano Lab, Department of Developomental & Regenerative Biology, Mount Sinai School of Medicine |
| Genetic information | Official allele name: Plxnb2tm1Matl. Knock-out by targeted trapping of the Plexin-B2 (Plxnb2) gene. Targeted mutagenesis using a promoterless gene trap vector ("targeted trapping") was used to insert a 9.4-kb placental alkaline phosphatase (PLAP) secretory cassette into the intron between exons 16 and 17 (counting the exon containing the translational start site as exon 1). This results in transcription of a fusion mRNA joining exons 1-16 of the endogenous gene to the elements of the cassette, comprising a splice acceptor and a transmembrane domain coding sequence followed by the betageo (lacZ/neomycin resistance fusion) cDNA, an internal ribosomal entry site (IRES), and the human PLAP sequence with a polyadenylation signal. Two proteins are translated from this bicistronic transcript: a Plxnb2/Betageo fusion protein that is sequestered in an intracellular compartment of the neuronal cell body; and PLAP, which is expressed on the axonal surface. |
| Phenotypic information | Homozygous mutation causes exencephaly with high penetrance (surviving mutants can be generated by outcrossing to CD1; these surviving hybrid mutants reveal malformation of cerebellar cortex). |
| Breeding history | Backcrossed to C57BL/6 for 13 generations. |
| References |
|
| Homozygous fertile | no |
| 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/6J males, wild-type C57BL/6J females |
| Stage of embryos | 2-cell |
Disease and phenotype information
MGI phenotypes (allele matching)
- abnormal cerebellar granule cell migration / MGI
- vision/eye phenotype / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- small kidney / MGI
- curly tail / MGI
- spina bifida / MGI
- renal hypoplasia / MGI
- duplex kidney / MGI
- impaired branching involved in ureteric bud morphogenesis / MGI
- neonatal lethality, incomplete penetrance / MGI
- double ureter / MGI
- abnormal ureteric bud tip morphology / MGI
- double kidney pelvis / MGI
- incomplete caudal neuropore closure / MGI
- belly spot / MGI
- abnormal cerebellum morphology / MGI
- small cerebellum / MGI
- abnormal cerebellar foliation / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- abnormal cerebellar Purkinje cell layer / MGI
- ectopic Purkinje cell / MGI
- abnormal cerebellar granule layer morphology / MGI
- ectopic cerebellar granule cells / MGI
- abnormal radial glial cell morphology / MGI
- abnormal cerebellar cortex morphology / MGI
- abnormal rostral migratory stream morphology / MGI
- behavior/neurological phenotype / MGI
- reproductive system phenotype / MGI
- abnormal neuronal migration / MGI
- abnormal olfactory bulb interneuron morphology / MGI
- abnormal olfactory bulb granule cell morphology / MGI
- abnormal olfactory bulb periglomerular cell morphology / MGI
- abnormal olfactory bulb layer morphology / MGI
- abnormal olfactory bulb internal plexiform layer morphology / MGI
- abnormal olfactory bulb mitral cell layer morphology / MGI
- decreased neuronal precursor proliferation / MGI
MGI phenotypes (gene matching)
- belly spot / MGI
- abnormal choroid plexus morphology / MGI
- abnormal brain ventricle morphology / MGI
- abnormal diencephalon morphology / MGI
- abnormal cerebellum morphology / MGI
- small cerebellum / MGI
- absent cerebellar foliation / MGI
- abnormal cerebellar foliation / MGI
- abnormal cerebellum external granule cell layer morphology / MGI
- abnormal cerebellar Purkinje cell layer / MGI
- ectopic Purkinje cell / MGI
- abnormal cerebellar granule layer morphology / MGI
- exencephaly / MGI
- incomplete rostral neuropore closure / MGI
- open neural tube / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal neural tube morphology / MGI
- abnormal brain morphology / MGI
- abnormal olfactory bulb development / MGI
- ectopic cerebellar granule cells / MGI
- small kidney / MGI
- curly tail / MGI
- spina bifida / MGI
- renal hypoplasia / MGI
- abnormal radial glial cell morphology / MGI
- duplex kidney / MGI
- abnormal striatum morphology / MGI
- abnormal cerebellar cortex morphology / MGI
- abnormal cerebellar granule cell morphology / MGI
- abnormal rostral migratory stream morphology / MGI
- impaired branching involved in ureteric bud morphogenesis / MGI
- behavior/neurological phenotype / MGI
- reproductive system phenotype / MGI
- vision/eye phenotype / MGI
- abnormal neuronal migration / MGI
- abnormal olfactory bulb interneuron morphology / MGI
- abnormal olfactory bulb granule cell morphology / MGI
- abnormal olfactory bulb periglomerular cell morphology / MGI
- abnormal olfactory bulb layer morphology / MGI
- abnormal olfactory bulb internal plexiform layer morphology / MGI
- abnormal olfactory bulb mitral cell layer morphology / MGI
- abnormal cerebellar granule cell migration / MGI
- neonatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- enlarged brain ventricles / MGI
- double ureter / MGI
- abnormal ureteric bud tip morphology / MGI
- double kidney pelvis / MGI
- incomplete caudal neuropore closure / MGI
- decreased neuronal precursor proliferation / MGI
Literature references
- Plexin-B2 controls the development of cerebellar granule cells.;Friedel Roland H, Kerjan Géraldine, Rayburn Helen, Schüller Ulrich, Sotelo Constantino, Tessier-Lavigne Marc, Chédotal Alain, ;2007;The Journal of neuroscience : the official journal of the Society for Neuroscience;27;3921-32; 17409257
- Gene targeting using a promoterless gene trap vector ("targeted trapping") is an efficient method to mutate a large fraction of genes.;Friedel Roland H, Plump Andrew, Lu Xiaowei, Spilker Kerri, Jolicoeur Christine, Wong Karen, Venkatesh Tadmiri R, Yaron Avraham, Hynes Mary, Chen Bin, Okada Ami, McConnell Susan K, Rayburn Helen, Tessier-Lavigne Marc, ;2005;Proceedings of the National Academy of Sciences of the United States of America;102;13188-93; 16129827