Phenotypes associated with this allele

• Allele Symbol: Zic3^tm1Jwb
• Allele Name: targeted mutation 1, John W Belmont
• Allele ID: MGI:3698161
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zic3^tm1Jwb/Zic3^tm1Jwb	either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)	MGI:3698637
ot2	Zic3^tm1Jwb/Y	either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)	MGI:3698642

Genotype
MGI:3698637

hm1

• Allelic Composition: Zic3^tm1Jwb/Zic3^tm1Jwb
• Genetic Background: either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

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

mortality/aging

premature death ( J:117748 )

♀ • growth retarded mutants with malocclusion typically die within 2 months from insufficient eating

growth/size/body

malocclusion ( J:117748 )

♀ • growth retarded mutants have severe malocclusion

♀ • all mutants with malocclusion have kyphosis

hemifacial hypoplasia ( J:117748 )

♀ • mutants with malocclusion have prominent hemifacial microsomia

abnormal ear position ( J:117748 )

♀ • mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa

lowered ear position ( J:117748 )

♀ • mutants with malocclusion have asymmetric low set ears

postnatal growth retardation ( J:117748 )

♀ • seen in 8.9% of mutants at weaning age (numbers pooled from both males and females)

embryo

abnormal left-right axis patterning ( J:117748 )

♀ • 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

dextrocardia ( J:117748 )

♀ • 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

abnormal hyoid bone morphology ( J:117748 )

♀ • asymmetric length and shape of the hyoid bone

absent hyoid bone greater horns ( J:117748 )

♀ • aplasia of the greater horns of the hyoid bone

abnormal jaw morphology ( J:117748 )

♀

malocclusion ( J:117748 )

♀ • growth retarded mutants have severe malocclusion

♀ • all mutants with malocclusion have kyphosis

abnormal mandible morphology ( J:117748 )

♀ • mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature

mandibular coronoid process hypoplasia ( J:117748 )

♀ • mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible

premaxilla hypoplasia ( J:117748 )

♀ • seen in mutants with malocclusion

maxilla hypoplasia ( J:117748 )

♀ • seen in mutants with malocclusion

abnormal zygomatic bone morphology ( J:117748 )

♀ • mutants with malocclusion exhibit asymmetric position of the zygomatic bone

abnormal cricoid cartilage morphology ( J:117748 )

♀ • failure of fusion of cricoid cartilage in the midline

decreased rib number ( J:117748 )

♀ • at a very low penetrance level, lack the 13th rib

kyphosis ( J:117748 )

♀ • 45.8% develop thoracolumbar kyphosis by 2 months of age (numbers pooled from both males and females)

♀ • however, no vertebral body defects are seen

scoliosis ( J:117748 )

♀ • 14.6% develop thoracolumbar scoliosis by 2 months of age (numbers pooled from both males and females)

hearing/vestibular/ear

abnormal ear position ( J:117748 )

♀ • mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa

lowered ear position ( J:117748 )

♀ • mutants with malocclusion have asymmetric low set ears

limbs/digits/tail

kinked tail ( J:117748 )

♀ • 8.3% exhibit kinked tails (numbers pooled from both males and females)

♀ • however, no neural tube malformations are detected in embryos

respiratory system

abnormal cricoid cartilage morphology ( J:117748 )

♀ • failure of fusion of cricoid cartilage in the midline

vision/eye

developmental cataract ( J:117748 )

♀ • low penetrance of unilateral congenital cataract

craniofacial

abnormal hyoid bone morphology ( J:117748 )

♀ • asymmetric length and shape of the hyoid bone

absent hyoid bone greater horns ( J:117748 )

♀ • aplasia of the greater horns of the hyoid bone

abnormal jaw morphology ( J:117748 )

♀

malocclusion ( J:117748 )

♀ • growth retarded mutants have severe malocclusion

♀ • all mutants with malocclusion have kyphosis

abnormal mandible morphology ( J:117748 )

♀ • mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature

mandibular coronoid process hypoplasia ( J:117748 )

♀ • mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible

premaxilla hypoplasia ( J:117748 )

♀ • seen in mutants with malocclusion

maxilla hypoplasia ( J:117748 )

♀ • seen in mutants with malocclusion

abnormal zygomatic bone morphology ( J:117748 )

♀ • mutants with malocclusion exhibit asymmetric position of the zygomatic bone

hemifacial hypoplasia ( J:117748 )

♀ • mutants with malocclusion have prominent hemifacial microsomia

abnormal ear position ( J:117748 )

♀ • mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa

lowered ear position ( J:117748 )

♀ • 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

Genotype
MGI:3698642

ot2

• Allelic Composition: Zic3^tm1Jwb/Y
• Genetic Background: either: (involves: 129S6/SvEvTac * 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

mortality/aging

premature death ( J:117748 )

♂ • growth retarded mutants with malocclusion typically die within 2 months from insufficient eating

growth/size/body

malocclusion ( J:117748 )

♂ • growth retarded mutants have severe malocclusion

♂ • all mutants with malocclusion have kyphosis

hemifacial hypoplasia ( J:117748 )

♂ • mutants with malocclusion have prominent hemifacial microsomia

abnormal ear position ( J:117748 )

♂ • mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa

lowered ear position ( J:117748 )

♂ • mutants with malocclusion have asymmetric low set ears

postnatal growth retardation ( J:117748 )

♂ • seen in 8.9% of mutants at weaning age (numbers pooled from both males and females)

embryo

abnormal left-right axis patterning ( J:117748 )

♂ • exhibit left-right axis abnormalities that include dextrocardia and asplenia in one male

♂ • however, do not exhibit pulmonary isomerism or complete left-right reversal of the lung lobes

cardiovascular system

dextrocardia ( J:117748 )

♂ • 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

ectopia cordis ( J:117748 )

♂ • one male was found with thoraco-cervical ectopia cordis, a very rare congenital malformation in which the heart is located partially in the cervical region (anterior displacement compared to wild-type) but the cranial end of the sternum is split; ectopia cordis has not been previously reported in live born mice

skeleton

abnormal hyoid bone morphology ( J:117748 )

♂ • asymmetric length and shape of the hyoid bone

absent hyoid bone greater horns ( J:117748 )

♂ • aplasia of the greater horns of the hyoid bone

abnormal jaw morphology ( J:117748 )

♂

malocclusion ( J:117748 )

♂ • growth retarded mutants have severe malocclusion

♂ • all mutants with malocclusion have kyphosis

abnormal mandible morphology ( J:117748 )

♂ • mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature

mandibular coronoid process hypoplasia ( J:117748 )

♂ • mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible

premaxilla hypoplasia ( J:117748 )

♂ • seen in mutants with malocclusion

maxilla hypoplasia ( J:117748 )

♂ • seen in mutants with malocclusion

abnormal zygomatic bone morphology ( J:117748 )

♂ • mutants with malocclusion exhibit asymmetric position of the zygomatic bone

abnormal cricoid cartilage morphology ( J:117748 )

♂ • failure of fusion of cricoid cartilage in the midline

decreased rib number ( J:117748 )

♂ • at a very low penetrance level, lack the 13th rib

kyphosis ( J:117748 )

♂ • 45.8% develop thoracolumbar kyphosis by 2 months of age (numbers pooled from both males and females)

♂ • however, no vertebral body defects are seen

scoliosis ( J:117748 )

♂ • 14.6% develop thoracolumbar scoliosis by 2 months of age (numbers pooled from both males and females)

hearing/vestibular/ear

abnormal ear position ( J:117748 )

♂ • mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa

lowered ear position ( J:117748 )

♂ • mutants with malocclusion have asymmetric low set ears

limbs/digits/tail

kinked tail ( J:117748 )

♂ • 8.3% exhibit kinked tails (numbers pooled from both males and females)

♂ • however, no neural tube malformations are detected in embryos

respiratory system

abnormal cricoid cartilage morphology ( J:117748 )

♂ • failure of fusion of cricoid cartilage in the midline

vision/eye

developmental cataract ( J:117748 )

♂ • low penetrance of unilateral congenital cataract

craniofacial

abnormal hyoid bone morphology ( J:117748 )

♂ • asymmetric length and shape of the hyoid bone

absent hyoid bone greater horns ( J:117748 )

♂ • aplasia of the greater horns of the hyoid bone

abnormal jaw morphology ( J:117748 )

♂

malocclusion ( J:117748 )

♂ • growth retarded mutants have severe malocclusion

♂ • all mutants with malocclusion have kyphosis

abnormal mandible morphology ( J:117748 )

♂ • mutants with malocclusion exhibit deviation of the mandible from the midline and unilateral hypertrophy of the mandibular musculature

mandibular coronoid process hypoplasia ( J:117748 )

♂ • mutants with malocclusion exhibit unilateral underdevelopment of the coronoid process of the mandible

premaxilla hypoplasia ( J:117748 )

♂ • seen in mutants with malocclusion

maxilla hypoplasia ( J:117748 )

♂ • seen in mutants with malocclusion

abnormal zygomatic bone morphology ( J:117748 )

♂ • mutants with malocclusion exhibit asymmetric position of the zygomatic bone

hemifacial hypoplasia ( J:117748 )

♂ • mutants with malocclusion have prominent hemifacial microsomia

abnormal ear position ( J:117748 )

♂ • mutants with malocclusion exhibit asymmetric distance between the external auditory meatus and the orbital fossa

lowered ear position ( J:117748 )

♂ • 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