MGI phenotypes (allele matching)
- pancreatic islet hyperplasia / MGI
CD1.129P2(B6)-Sox9tm2Gsr/H
| Status | Available to order |
| EMMA ID | EM:05335 |
| Citation information | RRID:IMSR_EM:05335 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 | CD1.129P2(B6)-Sox9tm2Gsr/H |
| Alternative name | Sox9-neo |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Sox9tm2Gsr |
| Gene/Transgene symbol | Sox9 |
Information from provider
| Provider | Ralf Kist |
| Provider affiliation | Institute of Human Genetics, Newcastle University |
| Genetic information | A floxed (flanked by loxP sites) neo cassette was inserted into Sox9 intron 1 leading to aberrant splicing and decreased Sox9 expression levels. A third loxP site is located in the Sox9 3'-UTR as in Sox9-flox mice. The Sox9-neo allele is hypomorphic. |
| Phenotypic information | Heterozygous Sox9-neo mice are viable and fertile and display mild skeletal malformations. Homozygous Sox9-neo mice are perinatal lethal (E14-E15) and display severe skeletal defects. |
| Breeding history | Heterozygous Sox9-neo mice were initially backcrossed to C57BL/6 but, due to loss of viability, were later outcrossed to CD1 for at least 10 generations. The line can be maintained by crossing heterozygous Sox9-neo males to wild-type CD1 females. Heterozygotes are underrepresented at weaning. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| 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 CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.) males |
| Breeding at archiving centre | Males were archived upon arrival. No breeding was performed at the archiving centre. |
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)
- 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
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