Mouse Genome Informatics
involves: 129S2/SvPas * C57BL/6
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• die within the first hours after birth from respiratory failure


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
Central Hypoventilation Syndrome, Congenital; CCHS 209880 J:131365