About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3703544
Allelic
Composition
Del(6Dlx6-Dlx5)1Tlu/Del(6Dlx6-Dlx5)1Tlu
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
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 E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally (J:76480)
• the nasal cartilage is hypoplastic (J:139700)
• at E11.5, homozygotes display dysmorphic branchial arch derivatives
• 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 E18.5, maxillary structures are dysmorphic
• at E16.5, the maxillary bone is absent
• 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/body
• 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
• at E18.5, homozygotes display an overall reduced size relative to wild-type fetuses

embryo
• 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 ID Ref(s)
Split-Hand/Foot Malformation 1; SHFM1 183600 J:76480


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/29/2016
MGI 6.06
The Jackson Laboratory