IMPC phenotypes (gene matching)
B6.129P2-Msx1tm1Bero/Kctt
| Status | Available to order |
| EMMA ID | EM:09716 |
| International strain name | B6.129P2-Msx1tm1Bero/Kctt |
| Alternative name | Msx1tm1Bero (Synonym : Msx1-nlacZ) |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Msx1tm1Bero |
| 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 n-lacZ coding sequence into the homeobox coding sequence of Msx1 (exon 2) in frame to the open-reading-frame of the gene. The resulting mutation encodes a (nuclear) fusion protein displaying the activity of the beta-galactosidase enzyme. The Msx1 protein activity is lost (null mutation). |
| Phenotypic information | Homozygous:Homozygotes display a cleft palate and tooth agenesis. The cleft palate leads to death of the new-born during the first day after birth to the impossibility for new borns to suck milk. Homozygotes also display frequently hydrocephaly due to the absence of the subcommisural organ in the fore-brain.Heterozygous:Heterozygotes do not display any abnormality, except hydrocephaly at a low frequency (10%). |
| 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
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Hypodontia-dysplasia of nails syndrome / Orphanet_2228
- Oligodontia / Orphanet_99798
MGI phenotypes (allele matching)
- absent alveolar process / MGI
- cleft chin / MGI
- absent incisors / MGI
- growth retardation of molars / MGI
- shortened head / MGI
- abnormal cranium morphology / MGI
- short snout / MGI
- cyanosis / MGI
- respiratory distress / MGI
- absent malleus processus brevis / MGI
- abnormal palate morphology / MGI
- absent molars / MGI
- limbs/digits/tail phenotype / MGI
- palatal shelf hypoplasia / MGI
- cleft secondary palate / MGI
- neonatal lethality, complete penetrance / MGI
- increased neuron number / MGI
- dilated third ventricle / MGI
- dilated fourth ventricle / MGI
- abnormal diencephalon morphology / MGI
- abnormal roof plate morphology / MGI
- hydroencephaly / MGI
- abnormal brain morphology / MGI
- abnormal brain commissure morphology / MGI
- abnormal subcommissural organ morphology / MGI
- abnormal liver development / MGI
- exencephaly / MGI
- abnormal embryonic tissue morphology / MGI
- abnormal eye morphology / MGI
- abnormal body wall morphology / MGI
- abnormal facial morphology / MGI
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
- Insertional mutation of the mouse Msx1 homeobox gene by an nlacZ reporter gene.;Houzelstein D, Cohen A, Buckingham M E, Robert B, ;1997;Mechanisms of development;65;123-33; 9256350