Phenotypes Associated with This Genotype

Genotype
MGI:3703544

• Allelic Composition: Del(6Dlx6-Dlx5)1Tlu/Del(6Dlx6-Dlx5)1Tlu
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, complete penetrance ( J:76480 )

• homozygotes are viable up to E18.5

craniofacial

abnormal craniofacial bone morphology ( J:76480 )

absent Meckel's cartilage ( J:76480 )

• at E14.5, Meckel's cartilage is completely absent

abnormal cranial cartilage development ( J:76480 )

• 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

absent neurocranium ( J:76480 )

• at E16.5, homozygotes show complete absence of calvaria

absent mandible ( J:76480 )

• at E18.5, mandibular structures are dysmorphic

• at E16.5, the mandibular bone is absent

absent maxilla ( J:76480 )

• at E18.5, maxillary structures are dysmorphic

• at E16.5, the maxillary bone is absent

abnormal nasal bone morphology ( J:76480 )

• at E18.5, nasal structures are dysmorphic

abnormal nasal capsule morphology ( J:76480 )

• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally

abnormal pharyngeal arch morphology ( J:76480 )

• at E11.5, homozygotes display dysmorphic branchial arch derivatives

nasal cartilage hypoplasia ( J:139700 )

• the nasal cartilage is hypoplastic

abnormal nasal cavity morphology ( J:76480 )

• at E14.5, homozygotes show severe clefting of the entire nasal cavity

abnormal outer ear cartilage morphology ( J:76480 )

• at E14.5, external ear cartilage is absent

skeleton

abnormal nasal capsule morphology ( J:76480 )

• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally

nasal cartilage hypoplasia ( J:139700 )

• the nasal cartilage is hypoplastic

abnormal outer ear cartilage morphology ( J:76480 )

• at E14.5, external ear cartilage is absent

abnormal limb bone morphology ( J:76480 )

• at E14.5, all combinations of the central digits are absent, with missing cartilage including phalanges, metatarsals, and tarsals

abnormal axial skeleton morphology ( J:76480 )

• at E16.5, the axial skeleton, including vertebral bodies shows little or no ossification

abnormal craniofacial bone morphology ( J:76480 )

absent Meckel's cartilage ( J:76480 )

• at E14.5, Meckel's cartilage is completely absent

abnormal cranial cartilage development ( J:76480 )

• 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

absent neurocranium ( J:76480 )

• at E16.5, homozygotes show complete absence of calvaria

absent mandible ( J:76480 )

• at E18.5, mandibular structures are dysmorphic

• at E16.5, the mandibular bone is absent

absent maxilla ( J:76480 )

• at E18.5, maxillary structures are dysmorphic

• at E16.5, the maxillary bone is absent

abnormal nasal bone morphology ( J:76480 )

• at E18.5, nasal structures are dysmorphic

abnormal rib morphology ( J:76480 )

• at E16.5 and E18.5, the ribs are malformed, esp. in the region proximal to the vertebral column

decreased osteoblast cell number ( J:76480 )

• at E16.5, accumulation of mature osteoblasts is severely retarded or absent in mutant scapulas

absent cartilage ( J:76480 )

• 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

delayed bone ossification ( J:76480 )

• 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

delayed endochondral bone ossification ( J:76480 )

• 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

thin apical ectodermal ridge ( J:76480 )

• 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

abnormal digit morphology ( J:76480 )

• 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

ectrodactyly ( J:76480 )

• by E14.5, one to three of the central hindlimb digits are absent in all homozygotes

syndactyly ( J:76480 )

• 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

abnormal forelimb morphology ( J:76480 )

• 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

abnormal hindlimb morphology ( J:76480 )

• 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

abnormal limb bone morphology ( J:76480 )

• at E14.5, all combinations of the central digits are absent, with missing cartilage including phalanges, metatarsals, and tarsals

kinked tail ( J:76480 )

• at E11.5, mutant embryos exhibit kinked tail vertebrae

nervous system

open neural tube ( J:76480 )

• at E9.5, the anterior neuropore fails to close

exencephaly ( J:76480 )

• at E18.5, homozygotes display exencephaly, leading to cerebral trauma during fetal delivery and massive postnatal blood loss

hearing/vestibular/ear

abnormal outer ear cartilage morphology ( J:76480 )

• at E14.5, external ear cartilage is absent

abnormal inner ear morphology ( J:76480 )

• at E11.5, homozygotes show absence of inner ear structures

abnormal otic capsule morphology ( J:76480 , J:139700 )

• 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)

abnormal middle ear morphology ( J:76480 )

• at E14.5, the inner ear capsule and middle ear cartilages are fused and highly dysmorphic

vision/eye

abnormal eye development ( J:76480 )

• at E11.5, homozygotes show absence of developing eyes

microphthalmia ( J:76480 )

• at E18.5, homozygotes display reduced eye size

respiratory system

abnormal nasal bone morphology ( J:76480 )

• at E18.5, nasal structures are dysmorphic

abnormal nasal capsule morphology ( J:76480 )

• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally

nasal cartilage hypoplasia ( J:139700 )

• the nasal cartilage is hypoplastic

abnormal nasal cavity morphology ( J:76480 )

• at E14.5, homozygotes show severe clefting of the entire nasal cavity

growth/size/body

abnormal nasal bone morphology ( J:76480 )

• at E18.5, nasal structures are dysmorphic

abnormal nasal capsule morphology ( J:76480 )

• at E14.5, the outgrowth of the dysmorphic nasal prominence is curved caudally

nasal cartilage hypoplasia ( J:139700 )

• the nasal cartilage is hypoplastic

abnormal nasal cavity morphology ( J:76480 )

• at E14.5, homozygotes show severe clefting of the entire nasal cavity

abnormal outer ear cartilage morphology ( J:76480 )

• at E14.5, external ear cartilage is absent

decreased fetal size ( J:76480 )

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

embryo

abnormal pharyngeal arch morphology ( J:76480 )

• at E11.5, homozygotes display dysmorphic branchial arch derivatives

thin apical ectodermal ridge ( J:76480 )

• 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

open neural tube ( J:76480 )

• at E9.5, the anterior neuropore fails to close

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
split hand-foot malformation 1		DOID:0090021	OMIM:183600	J:76480