Phenotypes Associated with This Genotype

Genotype
MGI:5006955

• Allelic Composition: pal/pal
• Genetic Background: involves: 129S1/Sv * C57BL/6 * FVB/NJ

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

Balooning phenotype, reflecting Inflated vasculature in E9.5-10.5 pal/pal embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:171522 )

• embryos die by E11

cardiovascular system

abnormal vascular development ( J:171522 )

• at E9.5-10.5, mutants display diminished cranial vascular plexi

absent pharyngeal arch arteries ( J:171522 )

• at E9.5-10.5, mutants lack caudal pharyngeal arch arteries

dilated pharyngeal arch artery ( J:171522 )

• at E9.5-10.5, mutants exhibit dilated rostral arch arteries

craniofacial

absent pharyngeal arch arteries ( J:171522 )

• at E9.5-10.5, mutants lack caudal pharyngeal arch arteries

dilated pharyngeal arch artery ( J:171522 )

• at E9.5-10.5, mutants exhibit dilated rostral arch arteries

abnormal mandibular prominence morphology ( J:171522 )

• abnormal pharyngeal hinge morphology with a modest cleft due to hypoplasia of both the maxillary and mandibular prominences

abnormal maxillary prominence morphology ( J:171522 )

• abnormal pharyngeal hinge morphology with a modest cleft due to hypoplasia of both the maxillary and mandibular prominences

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

absent third pharyngeal arch ( J:171522 )

• agenesis of the third pharyngeal arch

embryo

absent pharyngeal arch arteries ( J:171522 )

• at E9.5-10.5, mutants lack caudal pharyngeal arch arteries

dilated pharyngeal arch artery ( J:171522 )

• at E9.5-10.5, mutants exhibit dilated rostral arch arteries

absent fourth pharyngeal arch ( J:171522 )

• agenesis of the fourth pharyngeal arch

absent third pharyngeal arch ( J:171522 )

• agenesis of the third pharyngeal arch

decreased embryo size ( J:171522 )

• at E9.5, mutant embryos are one half to two-thirds the size of control littermates

impaired cranial neural crest cell differentiation ( J:171522 )

• at E9.5, perturbation of cranial neural crest cell development

growth/size/body

decreased embryo size ( J:171522 )

• at E9.5, mutant embryos are one half to two-thirds the size of control littermates

hearing/vestibular/ear

abnormal otic vesicle morphology ( J:171522 )

• at E9.5, the otocyst is displaced rostrally and the otic placode frequently gives rise to multiple supernumerary otocyst adjacent to the caudal hindbrain and rostral spinal cord

nervous system

abnormal nervous system development ( J:171522 )

• at E9.5 mutants exhibit a near complete nervous system agenesis; no evidence of the neuronal network or plexus that forms in the midbrain

abnormal neuron differentiation ( J:171522 )

• at E9.5 little evidence of any overt neural differentiation in association with the cranial ganglia

impaired cranial neural crest cell differentiation ( J:171522 )

• at E9.5, perturbation of cranial neural crest cell development

abnormal vestibulocochlear ganglion morphology ( J:171522 )

• extreme hypoplasia or agenesis of the facioacoustic/vestibulocochlear ganglia

abnormal glossopharyngeal ganglion morphology ( J:171522 )

• extreme hypoplasia or agenesis of the glossopharyngeal ganglia

absent trigeminal ganglion ( J:171522 )

• extreme hypoplasia or agenesis of the trigeminal ganglia

abnormal vagus ganglion morphology ( J:171522 )

• extreme hypoplasia or agenesis of the vagal ganglia

cellular

abnormal neuron differentiation ( J:171522 )

• at E9.5 little evidence of any overt neural differentiation in association with the cranial ganglia