Phenotypes Associated with This Genotype

Genotype
MGI:3715179

• Allelic Composition: Epb41l5^lulu/Epb41l5^lulu
• Genetic Background: involves: C57BL/6J

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

mortality/aging

embryonic lethality between somite formation and embryo turning ( J:122548 )

embryo

abnormal endoderm development ( J:122548 )

• endoderm is normally specified, but fails to move ventrally to form the gut tube

abnormal mesoderm development ( J:122548 )

• by E7.75, anterior mesodermal wings of mesoderm layer around embryo circumference are only one cell layer thick compared to 3-4 layers in wild-type embryos

abnormal rostral-caudal body axis extension ( J:122548 )

• at E8.5, embryos have shortened trunks

embryonic growth arrest ( J:122548 )

• embryos arrest at E8.5-9

abnormal neural plate morphology ( J:122548 )

• at E8.5, anterior neural plate is broad, open, and folded into irregular ridges, and thicker than in wild-type

• nuclei of neural plate cells are more spherical than wild-type nuclei, while mutant cells with ellipsoid nuclei do not align their long axes with apical-basal axis of plate

abnormal neural tube morphology ( J:122548 )

• neural plates fail to close to form neural tube

abnormal embryonic neuroepithelium morphology ( J:122548 )

• organization shows abnormalities, with 20% of mitotic nuclei in mutant neuroepithelium located away from apical surface compared to only 5% in wild-type

abnormal primitive streak morphology ( J:122548 )

• epithelial-mesenchymal transition at primitive streak is defective; at E8.5, some cells have delaminated from the epithelial layer and are located in an abnormal bulge above Tbx6-expressing mesoderm

• primitive streak at E7.75 is thicker and wider than in wild-type embryos; increase in thickness is apparent at E8.5 also

• at E7.5, actin organization in primitive streak is defective, with absence of circumferential F-actin, and prominent puncta of F-actin in cells accumulating in streak at E7.5 and 8.5

absent somites ( J:122548 )

• embryos lack visible somites at E8.5

excessive folding of visceral yolk sac ( J:122548 )

• yolk sac appears ruffled at E8.5

failure of chorioallantoic fusion ( J:122548 )

• allantois fails to fuse with chorion

nervous system

abnormal neural plate morphology ( J:122548 )

• at E8.5, anterior neural plate is broad, open, and folded into irregular ridges, and thicker than in wild-type

• nuclei of neural plate cells are more spherical than wild-type nuclei, while mutant cells with ellipsoid nuclei do not align their long axes with apical-basal axis of plate

abnormal neural tube morphology ( J:122548 )

• neural plates fail to close to form neural tube

abnormal embryonic neuroepithelium morphology ( J:122548 )

• organization shows abnormalities, with 20% of mitotic nuclei in mutant neuroepithelium located away from apical surface compared to only 5% in wild-type

cardiovascular system

abnormal heart development ( J:122548 )

• lateral anlage does not move to embryo midline to form a single heart tube

cellular

abnormal cell nucleus morphology ( J:122548 )

• nuclei of neural plate cells are rounder with width: length ratio of 1.44 compared to the elongated and ellipsoid wild-type nuclei that have average width:length ratio of 2.33