Mouse Genome Informatics
hm
    Zic3tm1Bca/Zic3tm1Bca
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 30% of males are lost between birth and weaning
• significant lethality seen by E10.5 with continued loss of mice through birth
• this loss is somewhat less severe than in hemizygous males

embryogenesis
• 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)
• sidedness of the malformations appears to be random
• seen in some embryos at E8.5
• at E9.5, failure of fusion is seen in some embryos in the midbrain-hindbrain region
• some embryos with no other gross abnormalities show evidence of growth delay

nervous system
• seen in some embryos at E8.5
• at E9.5, failure of fusion is seen in some embryos in the midbrain-hindbrain region
• seen in some pups delivered by Ceasarian sections
• abnormal midbrain size and structure in some embryos
• abnormal forebrain size and structure in some embryos
• exencephalic mice have a disorganized basal ganglia
• exencephalic mice have an anteriorly displaced diencephalon
• exencephalic mice have a disorganized thalamus
• exencephalic mice have a disorganized hippocampus
• exencephalic mice have a disorganized cerebral cortex
• seen in exencephalic mice
• seen in a few stillborn pups
• xencephalic mice have rudimentary olfactory nerves

cardiovascular system
• a variety of cardiac defects are seen in a subset of embryos and these embryos always also have other abnormalities
• right aortic arch and interrupted aortic arch are seen in some embryos
• right aortic arch and interrupted aortic arch are seen in some embryos
• abnormal systemic venous connections
• one of the most common heart defects is dextro-transposition of the great arteries
• 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

respiratory system
• in a few embryos complete lung reversal is seen

digestive/alimentary system
• in some mice right sided stomach is seen

liver/biliary system
• in some mice reversed liver lobation is seen

immune system
• the spleen is always present but often hypoplastic

skeleton
• 10 null mice (includes males and females) had mostly unilateral axial skeletal defects
• partial rib duplications and inappropriately posterior sites of rib insertion are found
• partial duplications and partial fusions are seen
• apparent homeotic transformations

growth/size/body
• in some mice right sided stomach is seen
• some embryos with no other gross abnormalities show evidence of growth delay
• in a few embryos complete lung reversal is seen

hematopoietic system
• the spleen is always present but often hypoplastic

Mouse Models of Human Disease
OMIM IDRef(s)
Heterotaxy, Visceral, 1, X-Linked; HTX1 306955 J:75951