MGI phenotypes (allele matching)
B6.129S2-Msx2tm1.1Yvla/Kctt
| Status | Available to order |
| EMMA ID | EM:09719 |
| Citation information | RRID:IMSR_EM:09719 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 | B6.129S2-Msx2tm1.1Yvla/Kctt |
| Alternative name | Msx2tm1.1Yvla (Synonym : Msx2-GFP) |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Msx2tm1.1Yvla |
| Gene/Transgene symbol | Msx2 |
Information from provider
| Provider | Benoit Robert |
| Provider affiliation | Developmental and Stem Cell Biology, Institut Pasteur |
| Genetic information | Two loxP sites have been inserted by homologous recombination at each extremity of the Msx2 locus coding sequence. In addition and IRES sequence followed by the coding sequence of the GFP (Green Fluorescent Protein) has been inserted downstream to the stop codon. The intact allele encodes a bicistronic RNA encoding both the normal Msx2 protein and the GFP protein. After Cre-mediated recombination of the loxP sites, the whole Msx2 coding sequence is removed and the allele becomes a null Msx2 allele expressing only the GFP protein. |
| Phenotypic information | Homozygous:Before Cre-mediated recombination of the loxP sites the allele is perfectly functional and the homozygotes are normal. After the Cre-mediated recombination of the loxP sites the allele becomes a null allele and the homozygotes display pleiotropic defects of skeletal and ectodermal organs (abnormal calvaria development of the skull, defective chondrogenesis and endochondral ossification of long bones, hair-loss, mammary gland defects, molar tooth degeneration). In addition they also display foliation and lamination defects in the cerebellum.Heterozygous:Heterozygotes for both the conditional allele and the null allele are normal. |
| Breeding history | 14 backcrosses to C57BL/6 |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Enlarged parietal foramina / Orphanet_60015
- Parietal foramina with clavicular hypoplasia / Orphanet_251290
- Craniosynostosis, Boston type / Orphanet_1541
MGI phenotypes (gene matching)
- big ears / MGI
- decreased bone mineral density / MGI
- abnormal neurocranium morphology / MGI
- abnormal frontal bone morphology / MGI
- malocclusion / MGI
- brittle teeth / MGI
- degenerate molars / MGI
- ameloblast degeneration / MGI
- abnormal trabecular bone morphology / MGI
- decreased compact bone thickness / MGI
- abnormal long bone hypertrophic chondrocyte zone / MGI
- decreased chondrocyte number / MGI
- alopecia / MGI
- delayed hair regrowth / MGI
- abnormal nail morphology / MGI
- deformed nails / MGI
- long toenails / MGI
- abnormal cerebellum development / MGI
- cerebellum vermis hypoplasia / MGI
- abnormal cerebellum anterior vermis morphology / MGI
- absent cerebellum vermis lobule VIII / MGI
- absent cerebellum vermis lobule IX / MGI
- delaminated Purkinje cell layer / MGI
- delaminated cerebellar granule layer / MGI
- curly vibrissae / MGI
- short vibrissae / MGI
- abnormal eye development / MGI
- abnormal lens vesicle development / MGI
- microphthalmia / MGI
- abnormal lens morphology / MGI
- small lens / MGI
- abnormal cornea morphology / MGI
- corneal opacity / MGI
- abnormal retina morphology / MGI
- abnormal eye morphology / MGI
- abnormal skeleton development / MGI
- abnormal axial skeleton morphology / MGI
- no abnormal phenotype detected / MGI
- chondrodystrophy / MGI
- short tibia / MGI
- tonic seizures / MGI
- short femur / MGI
- abnormal optic vesicle formation / MGI
- nervous system phenotype / MGI
- embryonic growth retardation / MGI
- abnormal mammary gland embryonic development / MGI
- frontal bone foramen / MGI
- small interparietal bone / MGI
- small supraoccipital bone / MGI
- decreased osteoclast cell number / MGI
- premature hair loss / MGI
- abnormal retinal pigment epithelium morphology / MGI
- narrow eye opening / MGI
- cardiovascular system phenotype / MGI
- behavior/neurological phenotype / MGI
- vitreous body deposition / MGI
- abnormal bone ossification / MGI
- abnormal hair shedding / MGI
- abnormal appendicular skeleton morphology / MGI
- increased corneal stroma thickness / MGI
- abnormal enamel organ morphology / MGI
- mortality/aging / MGI
- integument phenotype / MGI
- anterior iris synechia / MGI
- increased cornea thickness / MGI
- long nails / MGI
- abnormal nail matrix morphology / MGI
- iris hyperplasia / MGI
- decreased corneal epithelium thickness / MGI
- abnormal stellate reticulum morphology / MGI
- abnormal stratum intermedium morphology / MGI
Literature references
- Generation of an Msx2-GFP conditional null allele.;Bensoussan Vardina, Lallemand Yvan, Moreau Julie, Cloment Cécile Saint, Langa Francina, Robert Benoît, ;2008;Genesis (New York, N.Y. : 2000);46;276-82; 18442049