About   Help   FAQ
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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/09/2024
MGI 6.23
The Jackson Laboratory