Analysis Tools|
Allele Symbol Allele Name Allele ID |
Prrx2tm1Mjk targeted mutation 1, Michael J Kern MGI:1857684 |
||||||||||||||||||||||||
| Summary |
5 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants are viable and fertile and show no defects in the skeleton or Meckel's cartilage
(J:51596)
• homozygotes are viable and fertile and show no cardiac anomalies
(J:60507)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• phenotypes are stated to be identical to double homozygous Prxx1tm1Tex and Prrx2tm1Mjk mutants, however data is not presented in J:51596
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• all great arteries appear to run somewhat tortuously through the surrounding mesenchyme
• arteries sometimes show irregular vessel walls instead of smooth ones, although vessel wall thickness is normal
|
|
• pulmonary trunk is positioned slightly more vertically than in wild-types
|
|
• exhibit abnormal positioning and awkward curvature of the aortic arch
|
|
• the arteries branching off the aortic arch appear to be set slightly further apart than in wild-type
|
|
• 2 of 7 show a retroesophageal right subclavian artery
|
|
• exhibit a misdirected and elongated ductus arterious
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die within 24 hours of birth
(J:51596)
• all die neonatally, most likely from respiratory failure
(J:52212)
|
|
• integrity of the forelimb apical ectodermal ridge is abnormal as determined by expression of Fgf8 and Bmp4
|
|
• exhibit respiratory distress marked by gasping motions and cyanosis
|
|
• show severe defects in limb morphogenesis
|
|
• integrity of the forelimb apical ectodermal ridge is abnormal as determined by expression of Fgf8 and Bmp4
|
|
• in the forelimb autopod, most commonly see postaxial polydactyly, however syndactyly, oligodactyly, and abnormal digit placement affecting posterior elements are also seen
|
|
• the hamate carpal is abnormal
• mutants with the oligodactyly phenotype show posterior carpal defects in which the hamate is truncated and the triquetrum is deleted
|
|
• the triquetrum is deleted in mutants with oligodactyly
|
|
• 83% exhibit duplications of the phalanges of the first digit of the forelimb
• 2 of 12 (17%) show duplications of the most distal phalange of the 5th digit in the hindlimb
|
|
• 25% show a laterally displaced digit 5 in forelimb autopods
• abnormal placement of the 5th digit results from an abnormal articulation between the 5th digit and the hamate carpal
|
|
• 8% (1 of 12) shows complete loss of posterior digits
|
|
• 67% of forelimb autopods show postaxial polydactyly with variable expressivity; the extra skeletal element ranges from a small extra, posterior cartilaginous body that does not articulate with a carpal to more extensively formed cartilage element that is fused to an abnormally laterally positioned triquetrum
|
|
• 100% of hindlimb autopods show preaxial polydactyly resulting from a duplication of the first digit
|
|
• one shows syndactyly of the proximal phyalange of digits 3 and 4
|
|
• exhibit extreme shortening and impaired ossification of the hindlimb zeugopods
|
|
• Meckel's cartilage is absent except for a remnant at the most rostral tip of the developing mandible
|
|
• fail to form an incisor tooth
|
|
• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone
|
|
• exhibit failure of odontoblasts to differentiate
|
|
• exhibit failure of ameloblasts to differentiate
|
|
• mandibular incisor development arrests at the single tooth bud
• although the mesenchyme condenses around the dental epithelium, the morphogenic events leading to the bell-stage tooth fail to occur
|
|
• mandible is fused at its most rostral aspect
|
|
• mandible is severely shortened
|
|
• the palatal process of the maxilla is deleted
|
|
• the zygomatic process of the maxilla is deleted
|
|
• the hamate carpal is abnormal
• mutants with the oligodactyly phenotype show posterior carpal defects in which the hamate is truncated and the triquetrum is deleted
|
|
• the triquetrum is deleted in mutants with oligodactyly
|
|
• 83% exhibit duplications of the phalanges of the first digit of the forelimb
• 2 of 12 (17%) show duplications of the most distal phalange of the 5th digit in the hindlimb
|
|
• architecture of the tibiotarsal diaphyseal growth plate is abnormal in that little ossification occurs
• proliferating chondrocytes lose their normal polarity parallel to the long axis of the bone and assume a perpendicular orientation
|
|
• some hypertrophying chondrocytes are seen, however these cells are abnormally shifted laterally to one side of the tibia
|
|
• endochondral ossification is abnormal in limbs as indicated by the small, laterally displaced ossification zone
|
|
• neonates have posteriorly displaced auricles
|
|
• neonates have more hypoplastic auricles
|
|
• exhibit open eyes secondary to failure of eyelid formation
|
|
• exhibit open eyes secondary to failure of eyelid formation
|
|
• Meckel's cartilage is absent except for a remnant at the most rostral tip of the developing mandible
|
|
• fail to form an incisor tooth
|
|
• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone
|
|
• exhibit failure of odontoblasts to differentiate
|
|
• exhibit failure of ameloblasts to differentiate
|
|
• mandibular incisor development arrests at the single tooth bud
• although the mesenchyme condenses around the dental epithelium, the morphogenic events leading to the bell-stage tooth fail to occur
|
|
• mandible is fused at its most rostral aspect
|
|
• mandible is severely shortened
|
|
• the palatal process of the maxilla is deleted
|
|
• the zygomatic process of the maxilla is deleted
|
|
• all have a cleft secondary palate
|
|
• neonates have posteriorly displaced auricles
|
|
• neonates have more hypoplastic auricles
|
|
• the palatal process of the maxilla is deleted
|
|
• all have a cleft secondary palate
|
|
• fail to form an incisor tooth
|
|
• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone
|
|
• exhibit failure of odontoblasts to differentiate
|
|
• exhibit failure of ameloblasts to differentiate
|
|
• mandibular incisor development arrests at the single tooth bud
• although the mesenchyme condenses around the dental epithelium, the morphogenic events leading to the bell-stage tooth fail to occur
|
|
• the palatal process of the maxilla is deleted
|
|
• all have a cleft secondary palate
|
|
• neonates have posteriorly displaced auricles
|
|
• neonates have more hypoplastic auricles
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 2 of 9 (22%) show oligodactyly of forelimb autopods
|
|
• 4 of 9 (44%) exhbit postaxial polydactyly of forelimb autopods that is less severe than seen in double homozygous mutants; none show hindlimb preaxial polydactyly
• 1 of 9 (11%) shows duplications of the first digit of the forelimb
|
|
• zeugopod is shorter than in wild-type but not as short as in double homozygous mutants
|
|
• exhibit only a single midline incisor tooth
|
|
• mandible is fused rostrally
|
|
• exhibit only a single midline incisor tooth
|
|
• mandible is fused rostrally
|
|
• exhibit only a single midline incisor tooth
|
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 11/12/2024 MGI 6.24 |
|
|
|
||
