- short mandible / MGI
- short maxilla / MGI
- abnormal scapula morphology / MGI
- abnormal sternum morphology / MGI
- abnormal xiphoid process morphology / MGI
- abnormal cartilage development / MGI
- shortened head / MGI
- domed cranium / MGI
- short snout / MGI
- decreased body weight / MGI
- respiratory distress / MGI
- abnormal tail morphology / MGI
- abnormal skeleton development / MGI
- no abnormal phenotype detected / MGI
- abnormal primary sex determination / MGI
- abnormal laryngeal cartilage morphology / MGI
- micrognathia / MGI
- abnormal bone mineralization / MGI
- no phenotypic analysis / MGI
- abnormal hyoid bone morphology / MGI
- abnormal tracheal cartilage morphology / MGI
- increased width of hypertrophic chondrocyte zone / MGI
- abnormal long bone morphology / MGI
- short sternum / MGI
- abnormal sternebra morphology / MGI
- small scapula / MGI
- scapular bone hypoplasia / MGI
- abnormal scapular spine morphology / MGI
- absent deltoid tuberosity / MGI
- bowed tibia / MGI
- bowed ulna / MGI
- bowed radius / MGI
- abnormal pubis morphology / MGI
- abnormal ischium morphology / MGI
- small pubis / MGI
- abnormal humerus morphology / MGI
- abnormal ilium morphology / MGI
- hearing/vestibular/ear phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- digestive/alimentary phenotype / MGI
- reproductive system phenotype / MGI
- vision/eye phenotype / MGI
- decreased percent body fat/body weight / MGI
- pancreatic islet hyperplasia / MGI
- abnormal Meckel's cartilage morphology / MGI
- congestive heart failure / MGI
- decreased pancreatic beta cell mass / MGI
- decreased pancreatic delta cell number / MGI
- decreased PP cell number / MGI
- meteorism / MGI
- cleft secondary palate / MGI
- bifurcated tongue / MGI
- decreased total body fat amount / MGI
- small thoracic cage / MGI
- mortality/aging / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- abnormal head shape / MGI
- decreased cranium length / MGI
- embryonic lethality prior to organogenesis / MGI
- decreased pancreatic alpha cell mass / MGI
B6;129P2-Sox9tm1Gsr/H
| Status | Available to order |
| EMMA ID | EM:05334 |
| Citation information | RRID:IMSR_EM:05334 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-Sox9tm1Gsr/H |
| Alternative name | Sox9-flox |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Sox9tm1Gsr |
| Gene/Transgene symbol | Sox9 |
Information from provider
| Provider | Ralf Kist |
| Provider affiliation | Institute of Human Genetics, Newcastle University |
| Genetic information | A region containing exons 2 and 3 was left floxed (flanked by loxP sites) after a floxed neo cassette was excised by the in vitro expression of cre recombinase. |
| Phenotypic information | Heterozygous and homozygous Sox9-flox mice are viable, fertile and appear normal. They can be used to conditionally inactivate Sox9 by crossing with cre recombinase-expressing mice. |
| Breeding history | Heterozygous Sox9-flox mice were backcrossed to C57BL/6 for three generations. Heterozygotes were then intercrossed to generate homozygous Sox9-flox mice which were subsequently maintained by sister-brother matings. The mice were backcrossed to C57BL/6J once after shipment to the MRC-Harwell. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
| Animals used for archiving | heterozygous C57BL/6J males |
| Breeding at archiving centre | Homozygous Sox9-flox mice were imported and backcrossed to C57BL/6J for one generation prior to archiving. |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Campomelic dysplasia / Orphanet_140
- 46,XX ovotesticular disorder of sex development / Orphanet_2138
- 46,XX testicular disorder of sex development / Orphanet_393
- Isolated Pierre Robin syndrome / Orphanet_718
- 46,XY complete gonadal dysgenesis / Orphanet_242
- 46,XY partial gonadal dysgenesis / Orphanet_251510
MGI phenotypes (gene matching)
Literature references
- Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.;Kist Ralf, Schrewe Heinrich, Balling Rudi, Scherer Gerd, ;2002;Genesis (New York, N.Y. : 2000);32;121-3; 11857796
- Homozygous inactivation of Sox9 causes complete XY sex reversal in mice.;Barrionuevo Francisco, Bagheri-Fam Stefan, Klattig Jürgen, Kist Ralf, Taketo Makoto M, Englert Christoph, Scherer Gerd, ;2006;Biology of reproduction;74;195-201; 16207837
- Fgf10 and Sox9 are essential for the establishment of distal progenitor cells during mouse salivary gland development.;Chatzeli Lemonia, Gaete Marcia, Tucker Abigail S, ;2017;Development (Cambridge, England);144;2294-2305; 28506998
- Precancerous niche remodelling dictates nascent tumour persistence.;Skrupskelyte G, Rojo Arias J E, Ajith H, Dang Y, Rossetti D, Han S, Tang M K S, Bejar M T, Colom B, Fowler J C, Murai K, Knight W, Aust D, Schmidt M H H, Jászai J, Zeki S, Noorani A, Jones P H, Rulands S, Simons B D, Alcolea M P, ;2026;Nature;653;242-253; 41781610
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