- decreased body size / MGI
- abnormal erythroid progenitor cell morphology / MGI
- delayed bone ossification / MGI
- abnormal interparietal bone morphology / MGI
- abnormal supraoccipital bone morphology / MGI
- abnormal nasal bone morphology / MGI
- abnormal basisphenoid bone morphology / MGI
- abnormal frontal bone morphology / MGI
- abnormal parietal bone morphology / MGI
- abnormal vertebral body morphology / MGI
- abnormal xiphoid process morphology / MGI
- abnormal erythropoiesis / MGI
- abnormal cranium morphology / MGI
- liver hypoplasia / MGI
- small thymus / MGI
- abnormal placenta labyrinth morphology / MGI
- respiratory failure / MGI
- abnormal tooth morphology / MGI
- abnormal B cell differentiation / MGI
- abnormal pulmonary alveolus morphology / MGI
- abnormal ameloblast morphology / MGI
- abnormal dentin morphology / MGI
- abnormal bone mineralization / MGI
- abnormal metatarsal bone morphology / MGI
- abnormal metacarpal bone morphology / MGI
- absent enamel / MGI
- delayed endochondral bone ossification / MGI
- delayed intramembranous bone ossification / MGI
- abnormal sagittal suture morphology / MGI
- abnormal presphenoid bone morphology / MGI
- abnormal cervical atlas morphology / MGI
- abnormal phalanx morphology / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- abnormal sternum ossification / MGI
- abnormal osteoblast differentiation / MGI
- abnormal trophoblast glycogen cell morphology / MGI
- abnormal spongiotrophoblast cell morphology / MGI
- decreased birth body size / MGI
- abnormal basicranium morphology / MGI
- neonatal lethality, complete penetrance / MGI
- decreased spongiotrophoblast size / MGI
B6.129P2-Sp3tm1Sus/Cnrm
Status | Available to order |
EMMA ID | EM:02429 |
International strain name | B6.129P2-Sp3tm1Sus/Cnrm |
Alternative name | Sp3 knockout |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Sp3tm1Sus |
Gene/Transgene symbol | Sp3 |
Information from provider
Provider | Sjaak Philipsen |
Provider affiliation | Genetics, Erasmus MC |
Genetic information | The targeting vector pBS-P-B-Delta-lacZ-neo-5'-Sp3 was designed to substitute exon 2 (amino acids 38-490) of the mouse Sp3 gene for IRES-LacZ-neo-polyA sequences. The lacZ-neo fusion gene is expressed under the control of the endogenous Sp3 promoter. The deleted sequences encode both glutamine-rich activation domains of Sp3. Thus, the disruption should result in a null allele. |
Phenotypic information | Sp3-deficient embryos are growth retarded and invariably die at birth of respiratory failure. Only minor morphological alterations were observed in the lung, and surfactant protein expression is indistinguishable from that of wild-type mice. Histological examinations of individual organs in Sp3-/- mice show a pronounced defect in late tooth formation. In Sp3 null mice, the dentin/enamel layer of the developing teeth is impaired due to the lack of ameloblast-specific gene products. Sp3 is also required for proper skeletal ossification. Both endochondral and intramembranous ossification are impaired in E18.5 Sp3-/- embryos. The absence of Sp3 also results in cell-autonomous hematopoietic defects, affecting in particular the erythroid and myeloid cell lineages. Finally, Sp3 is required for normal cardiac development; this is the likely cause of prenatal death of Sp3-/- embryos in the C57BL/6 background. |
Breeding history | The line was backcrossed to C57BL/6 for more than 20 generations. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- abnormal interparietal bone morphology / MGI
- abnormal supraoccipital bone morphology / MGI
- abnormal nasal bone morphology / MGI
- abnormal basisphenoid bone morphology / MGI
- abnormal frontal bone morphology / MGI
- abnormal parietal bone morphology / MGI
- abnormal tooth development / MGI
- abnormal vertebral body morphology / MGI
- abnormal xiphoid process morphology / MGI
- abnormal erythropoiesis / MGI
- abnormal cranium morphology / MGI
- liver hypoplasia / MGI
- small thymus / MGI
- decreased body size / MGI
- abnormal placenta labyrinth morphology / MGI
- respiratory failure / MGI
- abnormal B cell differentiation / MGI
- abnormal pulmonary alveolus morphology / MGI
- abnormal ameloblast morphology / MGI
- abnormal bone mineralization / MGI
- no phenotypic analysis / MGI
- abnormal metatarsal bone morphology / MGI
- abnormal metacarpal bone morphology / MGI
- delayed endochondral bone ossification / MGI
- delayed intramembranous bone ossification / MGI
- abnormal sagittal suture morphology / MGI
- abnormal presphenoid bone morphology / MGI
- abnormal cervical atlas morphology / MGI
- abnormal phalanx morphology / MGI
- decreased CD4-positive, alpha beta T cell number / MGI
- abnormal sternum ossification / MGI
- abnormal osteoblast differentiation / MGI
- abnormal erythroid progenitor cell morphology / MGI
- abnormal DNA methylation / MGI
- abnormal trophoblast glycogen cell morphology / MGI
- abnormal spongiotrophoblast cell morphology / MGI
- decreased birth body size / MGI
- abnormal basicranium morphology / MGI
- neonatal lethality, complete penetrance / MGI
- decreased spongiotrophoblast size / MGI
- abnormal dentin development / MGI
- abnormal enamel development / MGI
Literature references
- Sp1/Sp3 compound heterozygous mice are not viable: impaired erythropoiesis and severe placental defects.;Krüger Imme, Vollmer Marion, Simmons David G, Elsässer Hans-Peter, Philipsen Sjaak, Suske Guntram, ;2007;Developmental dynamics : an official publication of the American Association of Anatomists;236;2235-44; 17584888
- Transcription factor Sp3 knockout mice display serious cardiac malformations.;van Loo Pieter Fokko, Mahtab Edris A F, Wisse Lambertus J, Hou Jun, Grosveld Frank, Suske Guntram, Philipsen Sjaak, Gittenberger-de Groot Adriana C, ;2007;Molecular and cellular biology;27;8571-82; 17923686
- Transcription factor Sp3 is essential for post-natal survival and late tooth development.;Bouwman P, Göllner H, Elsässer H P, Eckhoff G, Karis A, Grosveld F, Philipsen S, Suske G, ;2000;The EMBO journal;19;655-61; 10675334
- Impaired ossification in mice lacking the transcription factor Sp3.;Göllner H, Dani C, Phillips B, Philipsen S, Suske G, ;2001;Mechanisms of development;106;77-83; 11472836
- Impaired hematopoiesis in mice lacking the transcription factor Sp3.;Van Loo Pieter Fokko, Bouwman Peter, Ling Kam-Wing, Middendorp Sabine, Suske Guntram, Grosveld Frank, Dzierzak Elaine, Philipsen Sjaak, Hendriks Rudolf W, ;2003;Blood;102;858-66; 12676787
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