Analysis Tools
muscle
|
• cranial muscle patterning and differentiation are abnormal as determined by marker expression
|
|
Allele Symbol Allele Name Allele ID |
Twist1tm1Bhr targeted mutation 1, Richard R Behringer MGI:1857265 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Summary |
16 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• cranial muscle patterning and differentiation are abnormal as determined by marker expression
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die by E11.5
|
|
• often accompanied by cranial neural fold hemorrhages; caudal region open, but trunk region often closed
|
|
• neural tube open from anterior extremity to rhombemere 4
|
|
• often accompanied by cranial neural fold hemorrhages; caudal region open, but trunk region often closed
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Saethre-Chotzen syndrome | DOID:14768 |
OMIM:101400 OMIM:180750 |
J:44379 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E11.5, blood pooling in the cranial region is observed
|
|
• at E11.5, forelimbs are reduced in size compared to wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• the overall shape of the neurocranium was normal
|
|
• poorly developed
|
|
• observed in 71% of mice
|
|
• poorly developed
|
|
• cranial suture abnormalities were observed in 89% of mice
• 68% showed complete or partial craniosynostosis of the occipitointerparietal (OIP) suture
|
|
• 57% showed complete or partial craniosynostosis of the coronal suture
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Saethre-Chotzen syndrome | DOID:14768 |
OMIM:101400 OMIM:180750 |
J:79294 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• overdeveloped; 10% larger and 20% longer, on average
|
|
• extra digits found on hindlimbs; usually affecting metatarsus and three phlanges
|
|
• overdeveloped; 10% larger and 20% longer, on average
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Saethre-Chotzen syndrome | DOID:14768 |
OMIM:101400 OMIM:180750 |
J:44379 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in all mice at E18.5
|
|
• at E18.5, 10 of 18 mice exhibit hindlimb polydactyly
|
|
• in all mice at E18.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E15 and E16, heterozygous null skulls display a broader zone of mineralized trabeculae in the parietal bone relative to wild-type; osteocalcin is already detectable in the parietal bone and extends toward the midline
• at P2, mineralized trabeculae have reached the midline suture in heterozygous but not in wild-type skulls; osteocalcin is abnormally detectable on both sides of the suture and reaches the midline, indicating premature osteoblast differentiation
|
|
• in heterozygous null skulls, premature osteoblast differentiation leads to premature suture closure
|
|
• at E15 and E16, heterozygous null skulls display a broader zone of mineralized trabeculae in the parietal bone relative to wild-type; osteocalcin is already detectable in the parietal bone and extends toward the midline
• at P2, mineralized trabeculae have reached the midline suture in heterozygous but not in wild-type skulls; osteocalcin is abnormally detectable on both sides of the suture and reaches the midline, indicating premature osteoblast differentiation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in all mice at E18.5
|
|
• at E18.5, 10 of 20 mice exhibit hindlimb polydactyly
|
|
• in all mice at E18.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• at E11.5, blood pooling in the cranial region is observed
|
|
• at E11.5, forelimbs are reduced in size compared to wild-type mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not exhibit craniosynostosis unlike in Twist1tm1Bhr heterozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in double heterozygotes, the frontal foramen phenotype is 3x more severe than in either single heterozygote
|
|
• in double heterozygotes, the incidence of digit duplication is identical to that observed in Twist1tm1Bhr heterozygotes (34%)
|
|
• in double heterozygotes, the frontal foramen phenotype is 3x more severe than in either single heterozygote
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Saethre-Chotzen syndrome | DOID:14768 |
OMIM:101400 OMIM:180750 |
J:87044 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• in contrast to the craniosynostotic Twist1tm1Bhr heterozygotes, 10-day-old mice doubly heterozygous for Runx2tm1Mjo and Twist1tm1Bhr exhibit a normally shaped skull, intraparietal bones of nearly normal size, and no premature fusion of coronal sutures
|
|
• notably, 10-day-old mice doubly heterozygotes for Runx2tm1Mjo and Twist1tm1Bhr continue to display the clavicle hypoplasia of Runx2tm1Mjo heterozygotes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• observed lethality is similar to that of Twist2tm1(cre)Dor homozygotes
|
|
• in 2-day old animals, increase in apoptotic cells is observed; in older pups, myofiber breakdown is observed
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 06/12/2024 MGI 6.13 |
|
|
|
||