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Allele Symbol Allele Name Allele ID |
Prrx2tm1Mjk targeted mutation 1, Michael J Kern MGI:1857684 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• phenotypes are stated to be identical to double homozygous Prxx1tm1Tex and Prrx2tm1Mjk mutants, however data is not presented in J:51596
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• pulmonary trunk is positioned slightly more vertically than in wild-types
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• exhibit abnormal positioning and awkward curvature of the aortic arch
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• the arteries branching off the aortic arch appear to be set slightly further apart than in wild-type
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• 2 of 7 show a retroesophageal right subclavian artery
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• exhibit a misdirected and elongated ductus arterious
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die within 24 hours of birth
(J:51596)
• all die neonatally, most likely from respiratory failure
(J:52212)
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• integrity of the forelimb apical ectodermal ridge is abnormal as determined by expression of Fgf8 and Bmp4
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• exhibit respiratory distress marked by gasping motions and cyanosis
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• show severe defects in limb morphogenesis
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• integrity of the forelimb apical ectodermal ridge is abnormal as determined by expression of Fgf8 and Bmp4
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• in the forelimb autopod, most commonly see postaxial polydactyly, however syndactyly, oligodactyly, and abnormal digit placement affecting posterior elements are also seen
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• 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
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• the triquetrum is deleted in mutants with oligodactyly
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• 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
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• 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
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• 8% (1 of 12) shows complete loss of posterior digits
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• 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
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• 100% of hindlimb autopods show preaxial polydactyly resulting from a duplication of the first digit
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• one shows syndactyly of the proximal phyalange of digits 3 and 4
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• exhibit extreme shortening and impaired ossification of the hindlimb zeugopods
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• Meckel's cartilage is absent except for a remnant at the most rostral tip of the developing mandible
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• fail to form an incisor tooth
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• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone
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• exhibit failure of odontoblasts to differentiate
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• exhibit failure of ameloblasts to differentiate
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• 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
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• mandible is fused at its most rostral aspect
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• mandible is severely shortened
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• the palatal process of the maxilla is deleted
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• the zygomatic process of the maxilla is deleted
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• 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
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• the triquetrum is deleted in mutants with oligodactyly
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• 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
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• 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
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• some hypertrophying chondrocytes are seen, however these cells are abnormally shifted laterally to one side of the tibia
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• endochondral ossification is abnormal in limbs as indicated by the small, laterally displaced ossification zone
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• neonates have posteriorly displaced auricles
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• neonates have more hypoplastic auricles
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• exhibit open eyes secondary to failure of eyelid formation
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• exhibit open eyes secondary to failure of eyelid formation
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• Meckel's cartilage is absent except for a remnant at the most rostral tip of the developing mandible
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• fail to form an incisor tooth
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• E16.5 mutants show reduced size of the tooth organ, epithelial hypertrophy, and abnormal positioning of the tooth germ relative to the alveolar bone
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• exhibit failure of odontoblasts to differentiate
|
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• exhibit failure of ameloblasts to differentiate
|
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• 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
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• mandible is fused at its most rostral aspect
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• mandible is severely shortened
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• the palatal process of the maxilla is deleted
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• the zygomatic process of the maxilla is deleted
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• all have a cleft secondary palate
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• neonates have posteriorly displaced auricles
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• neonates have more hypoplastic auricles
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• the palatal process of the maxilla is deleted
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• all have a cleft secondary palate
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• fail to form an incisor tooth
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• 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
|
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• all have a cleft secondary palate
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• neonates have posteriorly displaced auricles
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• neonates have more hypoplastic auricles
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 2 of 9 (22%) show oligodactyly of forelimb autopods
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• 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
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• zeugopod is shorter than in wild-type but not as short as in double homozygous mutants
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• exhibit only a single midline incisor tooth
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• mandible is fused rostrally
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• exhibit only a single midline incisor tooth
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• mandible is fused rostrally
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• exhibit only a single midline incisor tooth
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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