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Phenotypes Associated with This Genotype
Genotype
MGI:2654656
Allelic
Composition
Ndntm2Stw/Ndn+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndntm2Stw mutation (1 available); any Ndn mutation (11 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Prader-Willi Syndrome; PWS 176270 J:57890


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
04/19/2016
MGI 6.03
The Jackson Laboratory