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Phenotypes Associated with This Genotype
Genotype
MGI:2653534
Allelic
Composition
Dlx5/Dlx6tm1Levi/Dlx5/Dlx6tm1Levi
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dlx5/Dlx6tm1Levi mutation (0 available); any Dlx5 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are recovered up to E18 but die shortly after birth (J:77244)
• homozygotes are recovered up to E18 but die shortly after birth (J:77244)

limbs/digits/tail
• at E14.5 and E18, mutant hindlimbs display shortening or absence of central digits, often associated with deformation, syndactyly, and a severe medial cleft (J:77244)
• at E14.5 and E18, mutant hindlimbs display shortening or absence of central digits, often associated with deformation, syndactyly, and a severe medial cleft (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th phalanxes (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th phalanxes (J:77244)
• at E14.5 and E18, mutant hindlimbs display shortening of central digits (J:77244)
• at E14.5 and E18, mutant hindlimbs display shortening of central digits (J:77244)
• newborn homozygotes exhibit bilateral ectrodactyly of the posterior limbs (J:77244)
• 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)
• 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)
• at E14.5 and E18, mutant hindlimbs with missing digits are often associated with syndactyly of the remaining digits (J:77244)
• at E14.5 and E18, mutant hindlimbs with missing digits are often associated with syndactyly of the remaining digits (J:77244)
• 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 (J:77244)
• in contrast, no forelimb defects are observed (J:77244)
• 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 (J:77244)
• in contrast, no forelimb defects are observed (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th metatarsals (J:77244)
• in contrast, no malformations of tarsal bones or other proximal elements are observed (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th metatarsals (J:77244)
• in contrast, no malformations of tarsal bones or other proximal elements are observed (J:77244)

craniofacial
• 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 (J:80696)
• most affected craniofacial structures are neural-crest-derived (J:80696)
• 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 (J:80696)
• 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 (J:80696)
• most affected craniofacial structures are neural-crest-derived (J:80696)
• 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 (J:80696)
• at birth, the anterior skull base is severely malformed (J:80696)
• at birth, the anterior skull base is severely malformed (J:80696)
• at birth, the skull plates are virtually absent (J:80696)
• at birth, the skull plates are virtually absent (J:80696)
• at birth, the basisphenoid is distorted and bent to allow articulation of the pterygoid process with the transformed lower jaw (J:80696)
• at birth, the basisphenoid is distorted and bent to allow articulation of the pterygoid process with the transformed lower jaw (J:80696)
• at birth, the alisphenoids are duplicated (J:80696)
• at birth, the alisphenoids are duplicated (J:80696)
• at birth, the presphenoid is severely reduced (J:80696)
• at birth, the presphenoid is severely reduced (J:80696)
• at E12.5 and at birth, both upper and lower jaws are severely affected and appear as mirror-images of each other (J:80696)
• strikingly, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws (J:80696)
• 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 (J:80696)
• at E12.5 and at birth, both upper and lower jaws are severely affected and appear as mirror-images of each other (J:80696)
• strikingly, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws (J:80696)
• 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 (J:80696)
• homozygotes show a homeotic transformation of the lower jaw into an upper jaw, resulting in snout symmetry (J:80696)
• at E14.5, the mandible becomes unrecognizable and is transformed into a structure indistinguishable from the deformed maxillary bone complex (J:80696)
• the tranformed lower jaw appears to articulate with structures resembling distorted, duplicated pterygoid processes, rather than with the squamosal bone (J:80696)
• homozygotes show a homeotic transformation of the lower jaw into an upper jaw, resulting in snout symmetry (J:80696)
• at E14.5, the mandible becomes unrecognizable and is transformed into a structure indistinguishable from the deformed maxillary bone complex (J:80696)
• the tranformed lower jaw appears to articulate with structures resembling distorted, duplicated pterygoid processes, rather than with the squamosal bone (J:80696)
• at E14.5, the maxillary group of bones is structurally identifiable but severely distorted (J:80696)
• at E14.5, the maxillary group of bones is structurally identifiable but severely distorted (J:80696)
• at birth, the incus, malleus and stapes are all affected (J:80696)
• at birth, the incus, malleus and stapes are all affected (J:80696)
• newborn homozygotes show severe craniofacial defects associated with a homeotic transformation of the mandibular arch (J:77244)
• newborn homozygotes show severe craniofacial defects associated with a homeotic transformation of the mandibular arch (J:77244)
• 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 (J:80696)
• 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 (J:80696)
• transformation of the mandibular process into a maxillary process is first evident at ~E10.5-E11.0, when mandibular processes fail to fuse and are slightly increased in size (J:80696)
• transformation of the mandibular process into a maxillary process is first evident at ~E10.5-E11.0, when mandibular processes fail to fuse and are slightly increased in size (J:80696)
• 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)
• 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)
• newborn homozygotes display an apparent homeotic transformation of the entire mandibular (first pharyngeal) arch (J:77244)
• newborn homozygotes display an apparent homeotic transformation of the entire mandibular (first pharyngeal) arch (J:77244)
• newborn homozygotes display an abnormally symmetrical mouth (J:80696)
• newborn homozygotes display an abnormally symmetrical mouth (J:80696)
• at E12.5 and at birth, homozygotes exhibit gain-of-symmetry of the snout both along the right-left and antero-posterior planes (J:80696)
• at E12.5 and at birth, homozygotes exhibit gain-of-symmetry of the snout both along the right-left and antero-posterior planes (J:80696)

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 (J:80696)
• most affected craniofacial structures are neural-crest-derived (J:80696)
• 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 (J:80696)
• 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 (J:80696)
• most affected craniofacial structures are neural-crest-derived (J:80696)
• 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 (J:80696)
• at birth, the anterior skull base is severely malformed (J:80696)
• at birth, the anterior skull base is severely malformed (J:80696)
• at birth, the skull plates are virtually absent (J:80696)
• at birth, the skull plates are virtually absent (J:80696)
• at birth, the basisphenoid is distorted and bent to allow articulation of the pterygoid process with the transformed lower jaw (J:80696)
• at birth, the basisphenoid is distorted and bent to allow articulation of the pterygoid process with the transformed lower jaw (J:80696)
• at birth, the alisphenoids are duplicated (J:80696)
• at birth, the alisphenoids are duplicated (J:80696)
• at birth, the presphenoid is severely reduced (J:80696)
• at birth, the presphenoid is severely reduced (J:80696)
• at E12.5 and at birth, both upper and lower jaws are severely affected and appear as mirror-images of each other (J:80696)
• strikingly, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws (J:80696)
• 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 (J:80696)
• at E12.5 and at birth, both upper and lower jaws are severely affected and appear as mirror-images of each other (J:80696)
• strikingly, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws (J:80696)
• 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 (J:80696)
• homozygotes show a homeotic transformation of the lower jaw into an upper jaw, resulting in snout symmetry (J:80696)
• at E14.5, the mandible becomes unrecognizable and is transformed into a structure indistinguishable from the deformed maxillary bone complex (J:80696)
• the tranformed lower jaw appears to articulate with structures resembling distorted, duplicated pterygoid processes, rather than with the squamosal bone (J:80696)
• homozygotes show a homeotic transformation of the lower jaw into an upper jaw, resulting in snout symmetry (J:80696)
• at E14.5, the mandible becomes unrecognizable and is transformed into a structure indistinguishable from the deformed maxillary bone complex (J:80696)
• the tranformed lower jaw appears to articulate with structures resembling distorted, duplicated pterygoid processes, rather than with the squamosal bone (J:80696)
• at E14.5, the maxillary group of bones is structurally identifiable but severely distorted (J:80696)
• at E14.5, the maxillary group of bones is structurally identifiable but severely distorted (J:80696)
• at birth, the incus, malleus and stapes are all affected (J:80696)
• at birth, the incus, malleus and stapes are all affected (J:80696)
• 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 (J:80696)
• 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 (J:80696)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th phalanxes (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th phalanxes (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th metatarsals (J:77244)
• in contrast, no malformations of tarsal bones or other proximal elements are observed (J:77244)
• at E14.5 and E18, mutant hindlimbs show a distal defect of the 3rd and 4th metatarsals (J:77244)
• in contrast, no malformations of tarsal bones or other proximal elements are observed (J:77244)
• the stylohyoid ligament is often chondrified (J:80696)
• the stylohyoid ligament is often chondrified (J:80696)

embryogenesis
• 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)
• 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)
• newborn homozygotes display an apparent homeotic transformation of the entire mandibular (first pharyngeal) arch (J:77244)
• newborn homozygotes display an apparent homeotic transformation of the entire mandibular (first pharyngeal) arch (J:77244)

nervous system
• exencephaly is clearly evident at E9.5 (J:80696)
• exencephaly is clearly evident at E9.5 (J:80696)

hearing/vestibular/ear
• at birth, the incus, malleus and stapes are all affected (J:80696)
• at birth, the incus, malleus and stapes are all affected (J:80696)

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 (J:80696)
• strikingly, at E12.5, whisker pads with vibrissal follicles are observed on both the upper and the lower jaws (J:80696)

growth/size/body
• newborn homozygotes display an abnormally symmetrical mouth (J:80696)
• newborn homozygotes display an abnormally symmetrical mouth (J:80696)
• at E12.5 and at birth, homozygotes exhibit gain-of-symmetry of the snout both along the right-left and antero-posterior planes (J:80696)
• at E12.5 and at birth, homozygotes exhibit gain-of-symmetry of the snout both along the right-left and antero-posterior planes (J:80696)

Mouse Models of Human Disease
OMIM ID Ref(s)
Split-Hand/Foot Malformation 1; SHFM1 183600 J:77244


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory