All Phenotypes Phox2b<tm2.1Heno> MGI Mouse

neonatal lethality, complete penetrance ( J:190742 )

• mice die soon after birth

impaired neuron differentiation ( J:190742 )

• in nascent chain ganglia

decreased enteric neural crest cell number ( J:190742 )

• fewer enteric neural crest cells in the gut with an increase in undifferentiated cells

abnormal enteric ganglia morphology ( J:190742 )

• absent in the colon due to delayed gut colonization by enteric neural crest cells

abnormal sympathetic ganglion morphology ( J:190742 )

• smaller with thinner nerve fibers

• occasional aberrant location in the sympathetic chain

• more severe than in Phox2b^tm1.1Heno heterozygotes

• sympathetic ganglia are reduced in size because of impaired commitment, proliferation and differentiation of neuronal progenitors

abnormal retrotrapezoid nucleus morphology ( J:190742 )

• absent

abnormal glial cell morphology ( J:190742 )

• mice exhibit unbalanced neuroglial differentiation in sympathetic ganglia compared with wild-type mice

decreased neuronal precursor cell number ( J:190742 )

• with an increase in undifferentiated cells

abnormal neuron physiology ( J:190742 )

• autonomic neural progenitors from dissociated sympathetic ganglion cells exhibit impaired self-renewal and proliferation compared with wild-type cells

abnormal neuronal precursor proliferation ( J:190742 )

• impaired in sympathetic ganglia

abnormal respiratory function ( J:190742 )

• mice delivered by Caesarian do not breathe spontaneously

• however, breathing could be evoked by skin stimulation

impaired neuron differentiation ( J:190742 )

• in nascent chain ganglia

abnormal enteric neural crest cell migration ( J:190742 )

• severe delay in gut colonization by mutant ENCCs at E12.0

decreased enteric neural crest cell proliferation ( J:190742 )

• compromised enteric neural crest cells proliferation in the gut at E10