Mouse Genome Informatics
ht
    Ndntm2Stw/Ndn+
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice inheriting the paternal allele exhibit 98% lethality within 30 hours of birth

respiratory system
• mutants inheriting the mutant allele paternally exhibit respiratory distress shortly after birth; dsypneic with contraction of accessory respiratory muscles and often die at the end of this phase
• a few minutes before death, the respiratory contraction frequency dropped from one gasp every 2 seconds to one every 10-15 seconds and hypotonia is observed

cellular
• mice inheriting the maternal allele are indistinguishable from wild-type, whereas those inheriting the paternal allele show 98% lethality within 30 hours of birth

homeostasis/metabolism
• observed in mice inheriting the mutant allele from the father

muscle
• hypotonia is observed a few minutes before death when the mutant allele is paternally inherited

Mouse Models of Human Disease
OMIM IDRef(s)
Prader-Willi Syndrome; PWS 176270 J:57890