Phenotypes Associated with This Genotype

Genotype
MGI:2183235

• Allelic Composition: Alx4^tm1Rwi/Alx4^tm1Rwi
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:43769 )

• >98% of homozygotes die perinatally of gastroschisis

• in ~2% of newborns, the ventral body wall defect heals spontaneously without herniation of the abdominal viscera; these rare survivors are fertile and give rise to viable offspring

craniofacial

abnormal parietal bone morphology ( J:43769 )

• mutant newborns show a temporal delay in the formation (and hence, decreased size) of the parietal plate

• in contrast to wild-type, ossification of the parietal bone does not extend over the superior aspect of the skull

• skeletons of the rare homozygotes that survive to an age of 6 weeks, display a normal size parietal bone with normal cranial sutures

skeleton

abnormal parietal bone morphology ( J:43769 )

• mutant newborns show a temporal delay in the formation (and hence, decreased size) of the parietal plate

• in contrast to wild-type, ossification of the parietal bone does not extend over the superior aspect of the skull

• skeletons of the rare homozygotes that survive to an age of 6 weeks, display a normal size parietal bone with normal cranial sutures

growth/size/body

herniated abdominal wall ( J:43769 )

• >98% of homozygotes exhibit gastroschisis, a ventral body wall defect resulting in herniation of abdominal contents

• the herniation is caused by complete absence of ventral abdominal wall musculature, and is associated with reduced skin thickness

• in most cases, the ventral body wall defect is first noted at ~E15.5 and herniation occurs in utero; occasionally, herniation occurs at birth