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Phenotypes Associated with This Genotype
Genotype
MGI:3797591
Allelic
Composition
Phox2btm2Jbr/Phox2b+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phox2btm2Jbr mutation (0 available); any Phox2b mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within the first hours after birth from respiratory failure

homeostasis/metabolism

respiratory system
• mean respiratory minute volume (VE) during apnea-free periods of eupnoeic pups is depressed in mutants
• mutants exhibit gasping behavior and breathing irregularity is significantly greater in mutants
• plethysmographic recordings immediately after delivery show a range of phenotypes; 3 of 18 mutants ventilate only by intermittent gasping, the remaining breathe rhythmically but at a slower rate or show chaotic breathing that is interrupted by periods of apnea
• apneic episodes are more frequent and last longer in mutants than in wild-type, resulting in a 6.5-fold higher total apnea duration
• baseline ventilation in air is depressed in mutants
• mutants do not increase their ventilation in response to hypercapnia (elevated pCO2)
• die within the first hours after birth from respiratory failure

nervous system
• loss of a set of parafacial interneurons in the RTN/pFRG region

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital central hypoventilation syndrome DOID:0060731 OMIM:209880
J:131365


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory