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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Phox2btm1Jbr
targeted mutation 1, Jean-Francois Brunet
MGI:1926861
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Phox2btm1Jbr/Phox2btm1Jbr Not Specified MGI:2172761
ht2
Phox2btm1Jbr/Phox2b+ Not Specified MGI:2171201


Genotype
MGI:2172761
hm1
Allelic
Composition
Phox2btm1Jbr/Phox2btm1Jbr
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2btm1Jbr mutation (0 available); any Phox2b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die shortly after midgestation; no homozygotes survive to E18.5 and fewer homozygotes are recovered at E13.5
• prenatal lethality phenotype of homozygous mutant mice can be rescued by supplying them with noradrenergic agonists and these mice survive to around E18.5-birth
• die shortly after midgestation; no homozygotes survive to E18.5 and fewer homozygotes are recovered at E13.5

homeostasis/metabolism
• lack noradrenaline synthesis (J:55391)
• noradrenergic centers in the brain are absent in mutants that are supplied with noradrenergic agonist and survive to E18.5 (J:55391)

nervous system
• all autonomic ganglia fail to form properly and degenerate
• absence of the enteric components of the autonomic nervous system at E13.5
• the foregut contingent of enteric nervous system degenerates by apoptosis between E10.5 and E13.5 and migration of enteric neural precursors towards the mid- and hindgut is arrested at the stomach
• absence of parasympathetic ganglia at E13.5
• absence of sympathetic ganglia at E13.5
• neural-crest derived sympathetic progenitors aggregate at the sites of sympathetic ganglion formation at E10.5, but subsequently fail to proliferate and/or degenerate
• the area postrema never forms in mutants that are supplied with a noradrenergic agonist so that they can survive beyond E10.5
• the central target of visceral sensory ganglia, the nucleus of the solitary tract, never forms in mutants that are supplied with a noradrenergic agonist so that they can survive beyond E10.5
• locus coeruleus is absent in mutants that are supplied with noradrenergic agonist and survive to E18.5
• exhibit defects in the differentiation of branchiomotor neurons in the rhombencephalon (J:55391)
• visceral and branchial motor neurons are absent in the hindbrain of embryos supplied with a noradrenergic agonist so that they can survive to E18.5 (J:60832)
• precursors of branchial motor and visceral motor neurons arise in embryos but they fail to put out axons, to emigrate from the region and to differentiate (J:60832)
• exhibit increased cell death of motor neuronal precursors (J:60832)
• nucleus ambiguus is absent in mutants that are supplied with noradrenergic agonist and survive to E18.5 (J:60832)
• the three cranial sensory ganglia that are part of the autonomic reflex circuits are atropic in mid-gestation embryos (J:55391)
• the three epibranchial placode-derived visceral sensory ganglia (geniculate, petrosal, and nodose) degenerate (J:86516)
• the epibranchial placode-derived visceral sensory ganglia of the VIIth cranial nerve are atrophic in mid-gestation embryos (J:55391)
• degenerates until visually absent by E16.5 in mutants that are supplied with a noradrenergic agonist so that they can survive beyond E10.5 (J:86516)
• the epibranchial placode-derived visceral sensory ganglia of the IXth cranial nerves are atrophic in mid-gestation embryos
• degenerates until visually absent by E16.5 in mutants that are supplied with a noradrenergic agonist so that they can survive beyond E10.5
• the epibranchial placode-derived visceral sensory ganglia of the Xth cranial nerves are atrophic in mid-gestation embryos
• degenerates until visually absent by E16.5 in mutants that are supplied with a noradrenergic agonist so that they can survive beyond E10.5
• facial nerve (CN-VII) is absent in mutants that are supplied with a noradrenergic agonist and are able to survive to E18.5
• trigeminal nerve (CN-V) is absent in mutants that are supplied with a noradrenergic agonist and are able survive to E18.5
• the dorsal motor nucleus of the vagus nerve (CN-X) is absent in mutants that are supplied with a noradrenergic agonist and are able to survive to E18.5

cardiovascular system
• carotid body degenerates in mutants that are supplied with a noradrenergic agonist so that they can survive beyond E10.5
• 3 of 8 embryos exhibit signs of vascular congestion around the time of death (about E13.5)




Genotype
MGI:2171201
ht2
Allelic
Composition
Phox2btm1Jbr/Phox2b+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2btm1Jbr mutation (0 available); any Phox2b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• exhibit no pupillary response to light
• pupils fail to constrict in response to the parasympathetic agonist, carbachol
• exhibit bilateral dilated pupils

behavior/neurological
• exhibit no pupillary response to light
• pupils fail to constrict in response to the parasympathetic agonist, carbachol

nervous system
• exhibit severe atrophy of the ciliary ganglia at E13.5
• however, the superior cervical ganglion is normal

respiratory system
• exhibit an altered response to hypoxia and hypercapnia at birth; hypoxia results in a similar increase in ventilation as in wild-type but the total duration of post hypnoxic apneas is longer
• ventilatory response to hypercapnia is markedly lower than in wild-type at P2 and P6, but not at P10





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory