Phenotypes for Hectd1 MGI:3707219 MGI Mouse

abnormal neurocranium morphology ( J:122594 )

• malformation of the frontal and parietal bones and absence of exoccipital, petrosal and interpariatal bones are seen, probably secondary to neural tube defects

absent temporal bone petrous part ( J:122594 )

• absent petrosal bone

abnormal frontal bone morphology ( J:122594 )

absent interparietal bone ( J:122594 )

absent exoccipital bone ( J:122594 )

abnormal parietal bone morphology ( J:122594 )

abnormal craniofacial development ( J:122594 )

• at E9.5 in embryos where the anterior closure point of the neural tube is impaired, the facial primordial is split along the midline

• however, this defect appears to be resolved later and most other aspects of craniofacial development, including palatal formation, are normal

abnormal eye morphology ( J:122594 )

• eyes are malformed

abnormal eye distance/ position ( J:122594 )

• eyes are rotated in the head

microphthalmia ( J:122594 )

abnormal head mesenchyme morphology ( J:122594 )

• at E8.5 and E9.5, head mesenchyme is abnormal and denser around the neural tube

• however, the increase in cell density of head mesenchyme is not a result of failure of neural tube closure, abnormalities in neural crest cell development, or changes in proliferation or apoptosis rates in head mesenchyme

abnormal neural fold elevation formation ( J:122594 )

• at E8.5 and E9.5 failure of neural fold elevation and formation of the dorsal-lateral hinge points is seen

• at E8.5 and E9.5, neural tissue appears flat or convex, rather then concave and closed as in controls

• however, formation of the medial hinge points is normal

nervous system phenotype ( J:122594 )

N	• neural crest cell initiation, migration and differentiation occurs normally

exencephaly ( J:122594 )

• between E9.5 and E12.5 embryos exhibit cranial neural tube closure defects from forebrain to hindbrain

• however, the most anterior aspect of the forebrain is typically closed