Phenotypes Associated with This Genotype

Genotype
MGI:3618757

• Allelic Composition: Dkk1^tm1Lmgd/Dkk1^tm1Lmgd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:71787 )

• all homozygotes die at birth

craniofacial

small interparietal bone ( J:71787 )

• at E17.5, the mutant interparietal bone is reduced relative to the wild-type

small parietal bone ( J:71787 )

• at E17.5, the mutant parietal bone is reduced relative to the wild-type

absent mandible ( J:71787 )

• at E17.5, homozygotes lack a mandibular bone

absent maxilla ( J:71787 )

• at E17.5, homozygotes lack a maxillary bone

absent nasal bone ( J:71787 )

• at E17.5, homozygotes lack a nasal bone

abnormal craniofacial development ( J:71787 )

• at >E10.5, homozygotes lack all craniofacial structures anterior to the external ear

absent frontonasal prominence ( J:71787 )

• absent at E9.5

abnormal mandibular prominence morphology ( J:71787 )

• absent at E9.5

absent nasal placodes ( J:71787 )

• absent at E9.5

abnormal first pharyngeal arch morphology ( J:119933 )

• a single tissue mass replaces the first pair of branchial arches in some mice

nervous system

decreased forebrain size ( J:71787 , J:119933 )

• markedly reduced at E8.5 - E9.5 (J:119933)

decreased midbrain size ( J:71787 )

• by E10.5, homozygotes exhibit truncation of portions of the midbrain

absent diencephalon ( J:71787 )

• at E11.5, homozygotes lack a diencephalon

abnormal telencephalon morphology ( J:71787 )

• at E11.5, homozygotes lack a telencephalon

limbs/digits/tail

abnormal limb bud morphology ( J:71787 )

• at E10.5 and thereafter, homozygotes display defective limb outgrowth

thick apical ectodermal ridge ( J:71787 )

• at E10.5-E11.5, the AER of mutant limb buds appears to be slightly thickened

ectopic digits ( J:71787 )

• at >E11.5, mutant limb buds exhibit ectopic preaxial and postaxial digits

polydactyly ( J:71787 )

• at >E11.5, mutant limbs commonly display an extra digit I and/or an extra digit V

syndactyly ( J:71787 )

• at >E11.5, mutant limbs commonly display a fusion of digits II and III

abnormal forelimb morphology ( J:71787 )

• mutant forelimbs display fusion of digits and ectopic anterior and posterior digits, consistent with a severe reduction in programmed cell death and increased cell proliferation in developing limb bud cells

abnormal hindlimb morphology ( J:71787 )

• homozygotes display truncation of the medial and distal elements of hindlimbs

skeleton

small interparietal bone ( J:71787 )

• at E17.5, the mutant interparietal bone is reduced relative to the wild-type

small parietal bone ( J:71787 )

• at E17.5, the mutant parietal bone is reduced relative to the wild-type

absent mandible ( J:71787 )

• at E17.5, homozygotes lack a mandibular bone

absent maxilla ( J:71787 )

• at E17.5, homozygotes lack a maxillary bone

absent nasal bone ( J:71787 )

• at E17.5, homozygotes lack a nasal bone

embryo

abnormal first pharyngeal arch morphology ( J:119933 )

• a single tissue mass replaces the first pair of branchial arches in some mice

rostral body truncation ( J:71787 )

• by E10.5, homozygotes exhibit truncation of the forebrain and cephalic neural crest-derived head tissues

• at E11.5, all head derivatives anterior of the midbrain are absent

• starting at E8.5, homozygotes display a significant reduction in rostral tissue; however, the remaining anteroposterior body axis, as well as left-right asymmetry, appear unaffected

abnormal limb bud morphology ( J:71787 )

• at E10.5 and thereafter, homozygotes display defective limb outgrowth

thick apical ectodermal ridge ( J:71787 )

• at E10.5-E11.5, the AER of mutant limb buds appears to be slightly thickened

vision/eye

absent optic vesicle ( J:119933 )

• loss of eye evagination at E8.5 - E9.5

anophthalmia ( J:71787 )

• eyes absent at E9.5

taste/olfaction

absent nasal placodes ( J:71787 )

• absent at E9.5

respiratory system

absent nasal bone ( J:71787 )

• at E17.5, homozygotes lack a nasal bone

absent nasal placodes ( J:71787 )

• absent at E9.5

growth/size/body

absent nasal bone ( J:71787 )

• at E17.5, homozygotes lack a nasal bone

abnormal anterior head development ( J:71787 )

• at E9.5 and thereafter, homozygotes lack major head structures anterior of the otic vesicle, including eyes, olfactory placodes, frontonasal mass, and mandibular processes

• by E17.5, homozygotes exhibit a severely truncated head

microcephaly ( J:119933 )

• at E8.5 - E9.5, head size is reduced by 35% compared to wild-type