- 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
B6.129-Msx2tm1Bero/Kctt
| Status | Available to order |
| EMMA ID | EM:09720 |
| Citation information | RRID:IMSR_EM:09720 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 | B6.129-Msx2tm1Bero/Kctt |
| Alternative name | Msx2tm1Bero (Synonym : Msx2-nlacZ) |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Msx2tm1Bero |
| Gene/Transgene symbol | Msx2 |
Information from provider
| Provider | Benoit Robert |
| Provider affiliation | Developmental and Stem Cell Biology, Institut Pasteur |
| Genetic information | The complete nlacZ coding sequence has been inserted in frame at the ATG start codon of the Msx2 locus. The resulting allele is a null allele for Msx2, expressing a nuclear form of the beta-galactosidase enzyme instead of the genuine Msx2 protein. |
| Phenotypic information | Homozygous:Msx2tm1Bero mutation (Synonym: Msx2-nlacZ) is a null Msx2 mutation; homozygotes exhibit 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:The heterozygotes are normal. |
| Breeding history | 15 backcrosses to C57BL/6 |
| References |
|
| Homozygous fertile | no |
| 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)
Literature references
- Msx1 is required for dorsal diencephalon patterning.;Bach Antoine, Lallemand Yvan, Nicola Marie-Anne, Ramos Casto, Mathis Luc, Maufras Mathilde, Robert Benoît, ;2003;Development (Cambridge, England);130;4025-36; 12874124
Information on how we integrate external resources can be found here
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