Phenotypes Associated with This Genotype

Genotype
MGI:5006954

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

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

Developmental abnormalities and open gaping mouth in E9.5-10.5 pac/pac embryos

mortality/aging

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

• embryos die by E11

cardiovascular system

abnormal blood vessel morphology ( J:171522 )

• at E9.5-10.5, mutants exhibit a reduction in microvasculature

abnormal pharyngeal arch artery morphology ( J:171522 )

• at E9.5, pharyngeal arches exhibit abnormally expanded mesoderm derived arch arteries, particularly in the first pharyngeal arch, giving it the appearance of being massively enlarged and hollow

dilated pharyngeal arch artery ( J:171522 )

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

craniofacial

abnormal pharyngeal arch artery morphology ( J:171522 )

• at E9.5, pharyngeal arches exhibit abnormally expanded mesoderm derived arch arteries, particularly in the first pharyngeal arch, giving it the appearance of being massively enlarged and hollow

dilated pharyngeal arch artery ( J:171522 )

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

embryo

abnormal pharyngeal arch artery morphology ( J:171522 )

• at E9.5, pharyngeal arches exhibit abnormally expanded mesoderm derived arch arteries, particularly in the first pharyngeal arch, giving it the appearance of being massively enlarged and hollow

dilated pharyngeal arch artery ( J:171522 )

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

decreased embryo size ( J:171522 )

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

growth/size/body

decreased embryo size ( J:171522 )

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

nervous system

abnormal nervous system development ( J:171522 )

• at E10.5, mutants exhibit only rudimentary neuronal differentiation within the cranial ganglia and a complete lack of neuronal differentiation within the midbrain

abnormal trigeminal ganglion morphology ( J:171522 )

• in E8.5-9.5 embryos, the trigeminal ganglion is abnormally shaped and the Sox10 positive neural crest cell population within the forming ganglion is disorganized and dispersed rather than forming a tight coalescence as it does in controls