Phenotypes associated with this allele

• Allele Symbol: Phox2b^tm1.1Heno
• Allele Name: targeted mutation 1.1, Hideki Enomoto
• Allele ID: MGI:5451081
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Phox2b^tm1.1Heno/Phox2b^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)	MGI:5451106

Genotype
MGI:5451106

ht1

• Allelic Composition: Phox2b^tm1.1Heno/Phox2b⁺
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * C57BL/6 * DBA/2)

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

Neurocristopathy in Phox2b^tm1.1Heno/Phox2b⁺ and Phox2b^tm2.1Heno/Phox2b⁺ mice

mortality/aging

neonatal lethality, complete penetrance ( J:190742 )

• mice die soon after birth

nervous system

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 )

• fewer 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

• less severe than in Phox2b^tm2.1Heno heterozygotes

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

abnormal retrotrapezoid nucleus morphology ( J:190742 )

• absent

small facial motor nucleus ( J:190742 )

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 vagus ganglion morphology ( J:190742 )

• reduced dorsal motor nucleus of the vagus

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

respiratory system

abnormal respiratory function ( J:190742 )

• mice delivered by Caesarian do not breathe spontaneously

• however, breathing could be evoked by skin stimulation

homeostasis/metabolism

cyanosis ( J:190742 )

cellular

impaired neuron differentiation ( J:190742 )

• in nascent chain ganglia

abnormal enteric neural crest cell migration ( J:190742 )

• at E12, invasion of ENCCs in the hindgut mesenchyme is retarded

decreased enteric neural crest cell proliferation ( J:190742 )

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

abnormal neuronal precursor proliferation ( J:190742 )

• impaired in sympathetic ganglia

embryo

abnormal enteric neural crest cell migration ( J:190742 )

• at E12, invasion of ENCCs in the hindgut mesenchyme is retarded

decreased enteric neural crest cell proliferation ( J:190742 )

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

decreased enteric neural crest cell number ( J:190742 )

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