Mouse Genome Informatics
hm
    Dlx5/Dlx6tm1Tlu/Dlx5/Dlx6tm1Tlu
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• homozygotes are viable up to E18.5

craniofacial
• at E16.5, homozygotes show complete absence of calvaria
• at E18.5, mandibular structures are dysmorphic
• at E16.5, the mandibular bone is absent
• at E18.5, maxillary structures are dysmorphic
• at E16.5, the maxillary bone is absent
• at E18.5, nasal structures are dysmorphic
• at E14.5, Meckel's cartilage is completely absent
• at E11.5, homozygotes display dysmorphic branchial arch derivatives
• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally (J:76480)
• the nasal cartilage is hypoplastic (J:139700)
• at E14.5, homozygotes show severe clefting of the entire nasal cavity
• at E14.5, external ear cartilage is absent

skeleton
• at E14.5, all combinations of the central digits are absent, with missing cartilage including phalanges, metatarsals, and tarsals
• at E16.5, the axial skeleton, including vertebral bodies shows little or no ossification
• at E16.5, homozygotes show complete absence of calvaria
• at E18.5, mandibular structures are dysmorphic
• at E16.5, the mandibular bone is absent
• at E16.5, the maxillary bone is absent
• at E18.5, maxillary structures are dysmorphic
• at E18.5, nasal structures are dysmorphic
• at E16.5 and E18.5, the ribs are malformed, esp. in the region proximal to the vertebral column
• at E16.5, accumulation of mature osteoblasts is severely retarded or absent in mutant scapulas
• at E14.5, cartilage giving rise to the cranial floor (basioccipital, basisphenoid, and sphenoid) and frontonasal prominence are present, but show severe patterning defects
• at E14.5, cartilage from the exoccipital and ventral temporal bone primordia extending to the distal nasal capsule appear condensed and fused
• at E16.5, the dysmorphic cranial cartilage structure remains unossified
• at E14.5, Meckel's cartilage is completely absent
• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally (J:76480)
• the nasal cartilage is hypoplastic (J:139700)
• at E14.5, Alcian blue staining indicates absence of cartilage in frontonasal, supraoccipital, and rostral temporal areas, nasal prominence and central digits
• at E14.5, external ear cartilage is absent
• at E16.5, homozygotes display either delayed or no ossification in the forelimbs
• at E16.5, the dysmorphic cranial cartilage structure remains unossified
• at E16.5, the axial skeleton, including vertebral bodies shows little or no ossification
• delay in ossification becomes less severe in the axial and appendicular skeleton by E18.5
• at E16.5, endochondral ossification is either absent or delayed in all bones of the appendicular and axial skeleton
• at E18.5, transition from a cartilaginous to ossified skeleton remains severely retarded

limbs/digits/tail
• at E11.5, the medial portion at the hindlimb AER is thinner and the distal edge of the hindlimb is flattened
• at E10.5 and E11.5, BrdU incorporation indicates decreased cellular proliferation in the medial AER with subsequent loss of limb structures (medial digits), while proliferation in the underlying mesenchyme is unaffected
• at E16.5 and E18.5, forelimb and hindlimb digits are absent and/or fused
• at E14.5, the central digit is most commonly lost
• by E14.5, one to three of the central hindlimb digits are absent in all homozygotes
• at E14.5, the central hindlimb digit is absent while the remaining adjacent digits tend to be either misshapen or fused at phalanges or metatarsals
• similar defects are occasionally observed in the forelimbs
• at E16.5, forelimbs display either delayed or no ossification
• at E18.5, the ratio of forelimb ossification to cartilage remains retarded
• at E18.5, forelimbs display clefting due to missing and/or fused digits
• at E18.5, homozygotes display split hindlimbs with complete penetrance
• at E11.5, the distal edge of hindlimbs is flattened
• at E16.5, hindlimbs display clefting due to missing and/or fused digits
• at E14.5, all combinations of the central digits are absent, with missing cartilage including phalanges, metatarsals, and tarsals
• at E11.5, mutant embryos exhibit kinked tail vertebrae

nervous system
• at E9.5, the anterior neuropore fails to close
• at E18.5, homozygotes display exencephaly, leading to cerebral trauma during fetal delivery and massive postnatal blood loss

hearing/vestibular/ear
• at E14.5, external ear cartilage is absent
• at E11.5, homozygotes show absence of inner ear structures
• at E14.5, the inner ear capsule and middle ear cartilages are fused and highly dysmorphic (J:76480)
• mice are dorsally deficient in the otic capsule (J:139700)
• at E14.5, the inner ear capsule and middle ear cartilages are fused and highly dysmorphic

vision/eye
• at E11.5, homozygotes show absence of developing eyes
• at E18.5, homozygotes display reduced eye size

respiratory system
• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally (J:76480)
• the nasal cartilage is hypoplastic (J:139700)
• at E14.5, homozygotes show severe clefting of the entire nasal cavity

growth/size
• at E18.5, homozygotes display an overall reduced size relative to wild-type fetuses

embryogenesis
• at E11.5, homozygotes display dysmorphic branchial arch derivatives
• at E11.5, the medial portion at the hindlimb AER is thinner and the distal edge of the hindlimb is flattened
• at E10.5 and E11.5, BrdU incorporation indicates decreased cellular proliferation in the medial AER with subsequent loss of limb structures (medial digits), while proliferation in the underlying mesenchyme is unaffected
• at E9.5, the anterior neuropore fails to close

Mouse Models of Human Disease
OMIM IDRef(s)
Split-Hand/Foot Malformation 1; SHFM1 183600 J:76480