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Phenotypes Associated with This Genotype
Genotype
MGI:7397263
Allelic
Composition
Phox2btm1Rth/Phox2b+
Hprt1tm1(CAG-cre)Mnn/?
Genetic
Background
involves: 129 * 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hprt1tm1(CAG-cre)Mnn mutation (1 available); any Hprt1 mutation (1279 available)
Phox2btm1Rth mutation (1 available); any Phox2b mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• perinatal lethality, with death before P1

respiratory system
• harvest just prior to birth at E18.5, shows that only 33% of mutants take one spontaneous breath and no mutants show further spontaneous respiratory effort, become cyanotic, and all die within minutes of delivery

nervous system
• loss of TH neurons in the mesencephalic trigeminal nucleus nuclei
• the locus coeruleus is abnormal and fails to express tyrosine hydroxylase (TH), indicating absence of TH neurons; sparse and small neuronal cell bodies are seen suggesting cellular loss/attrition of these neurons
• abnormalities in noradrenergic circuits, including caudal hindbrain nuclei A1/C2 and the forebrain projections of locus coeruleus to hypothalamus
• loss of TH neurons in the locus coereleus, the dorsal motor nucleus of the vagus, and mesencephalic trigeminal nucleus nuclei
• however, neuronal precursors of the dorsal motor nucleus of the vagus (DMNV) are detectable at E13.5 indicating that progenitor specification occurs
• however, serotonergic neurons that express tryptophan hydroxylase and 5HT appear normal and no gross abnormalities in forebrain are seen
• abnormal formation of the seventh cranial nerve (CNVII, facial nucleus) in the embryonic brainstem is due to failure of precursor migration
• loss of TH neurons in the dorsal motor nucleus of the vagus
• electrophysiological recordings from E18.5 ex vivo brain stem shows depression of endogenous respiratory motor root output under baseline conditions and in response to the excitatory neuropeptide, substance P

homeostasis/metabolism

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital central hypoventilation syndrome DOID:0060731 OMIM:209880
J:331513


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