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Phenotypes Associated with This Genotype
Genotype
MGI:3698637
Allelic
Composition
Zic3tm1Jwb/Zic3tm1Jwb
Genetic
Background
either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Zic3tm1Jwb mutation (0 available); any Zic3 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• growth retarded mutants with malocclusion typically die within 2 months from insufficient eating

growth/size/body
• growth retarded mutants have severe malocclusion
• all mutants with malocclusion have kyphosis
• mutants with malocclusion have prominent hemifacial microsomia
• mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa
• mutants with malocclusion have asymmetric low set ears
• seen in 8.9% of mutants at weaning age (numbers pooled from both males and females)

embryo
• exhibit left-right axis abnormalities that include dextrocardia and left-sided bladder in one female
• however, do not exhibit pulmonary isomerism or complete left-right reversal of the lung lobes

cardiovascular system
• seen in 6.9% of E14.5-15.5 fetuses and 7.9% of 4-week old adults (numbers pooled from both males and females)
• however, do not observe dextro-transposition of the great arteries, interrupted aortic arch, or right aortic arch

skeleton
• asymmetric length and shape of the hyoid bone
• aplasia of the greater horns of the hyoid bone
• growth retarded mutants have severe malocclusion
• all mutants with malocclusion have kyphosis
• mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature
• mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible
• seen in mutants with malocclusion
• seen in mutants with malocclusion
• mutants with malocclusion exhibit asymmetric position of the zygomatic bone
• failure of fusion of cricoid cartilage in the midline
• at a very low penetrance level, lack the 13th rib
• 45.8% develop thoracolumbar kyphosis by 2 months of age (numbers pooled from both males and females)
• however, no vertebral body defects are seen
• 14.6% develop thoracolumbar scoliosis by 2 months of age (numbers pooled from both males and females)

hearing/vestibular/ear
• mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa
• mutants with malocclusion have asymmetric low set ears

limbs/digits/tail
• 8.3% exhibit kinked tails (numbers pooled from both males and females)
• however, no neural tube malformations are detected in embryos

respiratory system
• failure of fusion of cricoid cartilage in the midline

vision/eye
• low penetrance of unilateral congenital cataract

craniofacial
• asymmetric length and shape of the hyoid bone
• aplasia of the greater horns of the hyoid bone
• growth retarded mutants have severe malocclusion
• all mutants with malocclusion have kyphosis
• mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature
• mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible
• seen in mutants with malocclusion
• seen in mutants with malocclusion
• mutants with malocclusion exhibit asymmetric position of the zygomatic bone
• mutants with malocclusion have prominent hemifacial microsomia
• mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa
• mutants with malocclusion have asymmetric low set ears

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Goldenhar syndrome DOID:2907 OMIM:164210
J:117748


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory