All Phenotypes Zic3<+> MGI Mouse

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
visceral heterotaxy	DOID:0050545	OMIM:PS306955	J:5776 , J:13124 , J:14983 , J:62608 , J:63168

mortality/aging

postnatal lethality, incomplete penetrance ( J:75951 )

• about 30% of males are lost between birth and weaning

embryo

• failure, delay, or abnormal direction of turning are seen

• some embryos that survive beyond the turning stage show rotation defects including abnormal thoracic and lumbar flexion, and/or abnormal looping of the distal tail (including the hindlimb buds)

abnormal left-right axis patterning ( J:75951 )

• sidedness of the malformations appears to be random

embryonic growth retardation ( J:75951 )

• some embryos with no other gross abnormalities show evidence of growth delay

delayed neural tube closure ( J:75951 )

• seen in some embryos at E8.5

open neural tube ( J:75951 )

• at E9.5, failure of fusion is seen in some embryos in the midbrain-hindbrain region

nervous system

delayed neural tube closure ( J:75951 )

• seen in some embryos at E8.5

open neural tube ( J:75951 )

• at E9.5, failure of fusion is seen in some embryos in the midbrain-hindbrain region

abnormal midbrain morphology ( J:75951 )

• abnormal midbrain size and structure in some embryos

abnormal forebrain morphology ( J:75951 )

• abnormal forebrain size and structure in some embryos

abnormal basal ganglion morphology ( J:75951 )

• exencephalic mice have a disorganized basal ganglia

abnormal diencephalon morphology ( J:75951 )

• exencephalic mice have an anteriorly displaced diencephalon

disorganized thalamus ( J:75951 )

• exencephalic mice have a disorganized thalamus

abnormal hippocampus morphology ( J:75951 )

• exencephalic mice have a disorganized hippocampus

abnormal cerebral cortex morphology ( J:75951 )

• exencephalic mice have a disorganized cerebral cortex

absent cerebellum ( J:75951 )

• seen in exencephalic mice

anencephaly ( J:75951 )

• seen in a few stillborn pups

exencephaly ( J:75951 )

• seen in some pups delivered by Ceasarian sections

abnormal olfactory nerve morphology ( J:75951 )

• xencephalic mice have rudimentary olfactory nerves

cardiovascular system

abnormal cardiovascular system morphology ( J:75951 )

• a variety of cardiac defects are seen in a subset of embryos and these embryos always also have other abnormalities

interrupted aortic arch ( J:75951 )

• an interrupted aortic arch is seen in some embryos

right aortic arch ( J:75951 )

• a right aortic arch is seen in some embryos

abnormal heart development ( J:75951 )

• abnormal systemic venous connections

abnormal heart looping ( J:75951 )

d-loop transposition of the great arteries ( J:75951 )

• one of the most common heart defects is dextro-transposition of the great arteries

atrial septal defect ( J:75951 )

abnormal heart position or orientation ( J:75951 )

• at E10.5 in several embryos the heart is positioned to the left side of the thorax, however in some abnormally turned embryos the heart is properly positioned at the midline and in 2 cases the heart is positioned to the right side of the thorax

ventricular septal defect ( J:75951 )

respiratory system

left pulmonary isomerism ( J:75951 )

lung situs inversus ( J:75951 )

• in a few embryos complete lung reversal is seen

right pulmonary isomerism ( J:75951 )

digestive/alimentary system

right-sided stomach ( J:75951 )

• in some mice right sided stomach is seen

liver/biliary system

abnormal liver morphology ( J:75951 )

• in some mice reversed liver lobation is seen

immune system

spleen hypoplasia ( J:75951 )

• the spleen is always present but often hypoplastic

skeleton

abnormal axial skeleton morphology ( J:75951 )

• 2 heterozygous mice had mostly unilateral axial skeletal defects

abnormal rib morphology ( J:75951 )

• partial rib duplications and inappropriately posterior sites of rib insertion are found

abnormal vertebrae morphology ( J:75951 )

• partial duplications and partial fusions are seen

vertebral transformation ( J:75951 )

• apparent homeotic transformations

limbs/digits/tail

kinked tail ( J:75951 )

• about 40% of heterozygous females have kinked tails

growth/size/body