Analysis Tools
mortality/aging
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• homozygotes are recovered up to E18 but die shortly after birth
(J:77244)
|
limbs/digits/tail
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• at E14.5 and E18, mutant hindlimbs display shortening or absence of central digits, often associated with deformation, syndactyly, and a severe medial cleft
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• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th phalanxes
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brachydactyly
(
J:77244
)
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• at E14.5 and E18, mutant hindlimbs display shortening of central digits
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• newborn homozygotes exhibit bilateral ectrodactyly of the posterior limbs
(J:77244)
• mice exhibit ectrodactyly of the hindlimbs that is not observed in heterozygous mice or Dlx5 null mice
(J:135784)
• however, forelimbs hands are normal
(J:135784)
|
syndactyly
(
J:77244
)
|
• at E14.5 and E18, mutant hindlimbs with missing digits are often associated with syndactyly of the remaining digits
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• at E11.5-E12.5, the central part of the mutant hindlimb palette appears flattened or indented, with a high degree of variability between left and right hindlimbs
• in contrast, no forelimb defects are observed
|
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• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th metatarsals
• in contrast, no malformations of tarsal bones or other proximal elements are observed
|
craniofacial
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• at E14.5 and at birth, homozygotes show fusions between the hyoid bone and the pterygoid processes of the sphenoid bone and the superior horns of the thyroid
• most affected craniofacial structures are neural-crest-derived
• malformation of cephalic or presomitic mesoderm derived cranial structures is probably secondary to failure of neural tube closure or the primary skull defects in the viscerocranium
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• at birth, the anterior skull base is severely malformed
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• at birth, the basisphenoid is distorted and bent to allow articulation of the pterygoid process with the transformed lower jaw
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• at birth, the alisphenoids are duplicated
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• at birth, the presphenoid is severely reduced
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• at E12.5 and at birth, both upper and lower jaws are severely affected and appear as mirror-images of each other
• strikingly, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws
• structures resembling palatine rugae (i.e. a series of ridges associated with the inner surfaces of palatal shelves) are found on the inner surface of both upper and lower jaws
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• at E14.5, the maxillary group of bones is structurally identifiable but severely distorted
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• homozygotes show a homeotic transformation of the lower jaw into an upper jaw, resulting in snout symmetry
• at E14.5, the mandible becomes unrecognizable and is transformed into a structure indistinguishable from the deformed maxillary bone complex
• the tranformed lower jaw appears to articulate with structures resembling distorted, duplicated pterygoid processes, rather than with the squamosal bone
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• at birth, the incus, malleus and stapes are all affected
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• newborn homozygotes show severe craniofacial defects associated with a homeotic transformation of the mandibular arch
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• at E14.5, Meckel's cartilage is almost completely absent, though a small rudiment is found in the distalmost part of the lower jaw in some embryos
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• transformation of the mandibular process into a maxillary process is first evident at ~E10.5-E11.0, when mandicular processes fail to fuse and are slightly increased in size
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• newborn homozygotes display an apparent homeotic transformation of the entire mandibular (first pharyngeal) arch
(J:77244)
• at E14.5, most-derivatives of the first, second, and third branchial arch are distorted and fused while the ala temporalis is duplicated
(J:80696)
• branchial arch abnormalities are first evident at E10.5-E11.0
(J:80696)
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• newborn homozygotes display an abnormally symmetrical mouth
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• at E12.5 and at birth, homozygotes exhibit gain-of-symmetry of the snout both along the right-left and antero-posterior planes
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skeleton
|
• at E14.5 and at birth, homozygotes show fusions between the hyoid bone and the pterygoid processes of the sphenoid bone and the superior horns of the thyroid
• most affected craniofacial structures are neural-crest-derived
• malformation of cephalic or presomitic mesoderm derived cranial structures is probably secondary to failure of neural tube closure or the primary skull defects in the viscerocranium
|
|
• at birth, the anterior skull base is severely malformed
|
|
• at E14.5, Meckel's cartilage is almost completely absent, though a small rudiment is found in the distalmost part of the lower jaw in some embryos
|
|
• at birth, the basisphenoid is distorted and bent to allow articulation of the pterygoid process with the transformed lower jaw
|
|
• at birth, the alisphenoids are duplicated
|
|
• at birth, the presphenoid is severely reduced
|
|
• at E12.5 and at birth, both upper and lower jaws are severely affected and appear as mirror-images of each other
• strikingly, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws
• structures resembling palatine rugae (i.e. a series of ridges associated with the inner surfaces of palatal shelves) are found on the inner surface of both upper and lower jaws
|
|
• at E14.5, the maxillary group of bones is structurally identifiable but severely distorted
|
|
• homozygotes show a homeotic transformation of the lower jaw into an upper jaw, resulting in snout symmetry
• at E14.5, the mandible becomes unrecognizable and is transformed into a structure indistinguishable from the deformed maxillary bone complex
• the tranformed lower jaw appears to articulate with structures resembling distorted, duplicated pterygoid processes, rather than with the squamosal bone
|
|
• at birth, the incus, malleus and stapes are all affected
|
|
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th phalanxes
|
|
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th metatarsals
• in contrast, no malformations of tarsal bones or other proximal elements are observed
|
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• the stylohyoid ligament is often chondrified
|
embryo
|
• newborn homozygotes display an apparent homeotic transformation of the entire mandibular (first pharyngeal) arch
(J:77244)
• at E14.5, most-derivatives of the first, second, and third branchial arch are distorted and fused while the ala temporalis is duplicated
(J:80696)
• branchial arch abnormalities are first evident at E10.5-E11.0
(J:80696)
|
nervous system
anencephaly
(
J:80696
)
exencephaly
(
J:80696
)
|
• exencephaly is clearly evident at E9.5
|
hearing/vestibular/ear
|
• at birth, the incus, malleus and stapes are all affected
|
digestive/alimentary system
respiratory system
integument
|
• strikingly, at E12.5, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws
|
growth/size/body
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• newborn homozygotes display an abnormally symmetrical mouth
|
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• at E12.5 and at birth, homozygotes exhibit gain-of-symmetry of the snout both along the right-left and antero-posterior planes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| split hand-foot malformation 1 | DOID:0090021 |
OMIM:183600 |
J:77244 | |
