IMPC phenotypes (gene matching)
B6.129S2-Msx1tm2.1(cre/ERT2)Bero/Kctt
| Status | Available to order |
| EMMA ID | EM:09717 |
| International strain name | B6.129S2-Msx1tm2.1(cre/ERT2)Bero/Kctt |
| Alternative name | Msx1tm2.1(cre/ERT2)Bero (Synonym : Msx1-CreERT2) |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Msx1tm2.1(cre/ERT2)Bero |
| Gene/Transgene symbol | Msx1 |
Information from provider
| Provider | Benoit Robert |
| Provider affiliation | Developmental and Stem Cell Biology, Institut Pasteur |
| Genetic information | Insertion by homologous recombination of the complete CreERT2 coding sequence at the ATG start codon of the Msx1 locus. The result allele expresses the CreERT2 fusion protein instead of the genuine Msx1 protein. The CreERT2 protein displays a inducible version of the Cre recombinase, which activity can be induced by injection of Tamoxifen. |
| Phenotypic information | Homozygous:The Msx1tm2.1(cre/ERT2)Bero (Synonym: Msx1-CreERT2) mutation is a null Msx1 mutation. The main phenotype for the homozygotes is the presence at birth of a cleft palate that induces death during the first 24 hours due to the impossibility for the new-born to feed correctly. In addition, these animals display tooth agenesis and, in the brain, the absence of the sub-commissural organ that may lead to hydrocephaly.Heterozygous:Heterozygotes do not display any abnormality except, at a low frequency, hydrocephaly. |
| Breeding history | 14 backcrosses to C57BL/6 |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Animals used for archiving | heterozygous C57BL/6J |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Hypodontia-dysplasia of nails syndrome / Orphanet_2228
- Oligodontia / Orphanet_99798
MGI phenotypes (gene matching)
- overlapping parietal bones / MGI
- large anterior fontanelle / MGI
- short mandible / MGI
- absent premaxilla / MGI
- absent alveolar process / MGI
- short maxilla / MGI
- abnormal frontal bone morphology / MGI
- cleft chin / MGI
- absent incisors / MGI
- growth retardation of molars / MGI
- absent maxillary shelf / MGI
- absent palatine bone horizontal plate / MGI
- shortened head / MGI
- abnormal cranium morphology / MGI
- short snout / MGI
- abnormal mandible morphology / MGI
- abnormal liver development / MGI
- dilated third ventricle / MGI
- dilated fourth ventricle / MGI
- abnormal diencephalon morphology / MGI
- exencephaly / MGI
- abnormal roof plate morphology / MGI
- cyanosis / MGI
- hydroencephaly / MGI
- abnormal breathing pattern / MGI
- respiratory distress / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal eye morphology / MGI
- abnormal tooth morphology / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal brain commissure morphology / MGI
- absent malleus processus brevis / MGI
- abnormal facial morphology / MGI
- abnormal palate morphology / MGI
- abnormal metopic suture morphology / MGI
- absent molars / MGI
- small nasal bone / MGI
- absent upper incisors / MGI
- absent lower incisors / MGI
- limbs/digits/tail phenotype / MGI
- cardiovascular system phenotype / MGI
- short malleus / MGI
- increased neuron number / MGI
- absent gastric milk in neonates / MGI
- abnormal subcommissural organ morphology / MGI
- palatal shelf hypoplasia / MGI
- abnormal palatal shelf fusion at midline / MGI
- cleft secondary palate / MGI
- neonatal lethality, complete penetrance / MGI
- abnormal epitympanic recess morphology / MGI
- thoracoabdominoschisis / MGI
Literature references
- Generation and characterization of a tamoxifen inducible Msx1(CreERT2) knock-in allele.;Lallemand Yvan, Moreau Julie, Cloment Cécile Saint, Vives Francina Langa, Robert Benoît, ;2013;Genesis (New York, N.Y. : 2000);51;110-9; 23090744