mortality/aging
• when the mutant allele is paternally inherited, many mutants die within 30 hours of birth, however those surviving the first 30 hours are indistinguishable from wild-type
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• Background Sensitivity: high level of postnatal lethality, especially on a C57BL/6 background, within 30 hours following birth, when the mutant allele is paternally inherited
• Background Sensitivity: male offspring derived from mating of chimeric males with wild-type C57BL/6 females have a higher level of lethality than females, with 95% of males and 40% of females dying
• Background Sensitivity: when the single surviving mutant male is bred with wild-type C57BL/6 females, male and female offspring are equally affected by lethality (80%)
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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 drops from one gasp every 2 seconds to one every 10-15 seconds and hypotonia is observed
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cellular
• mice inheriting the maternal allele are indistinguishable from wild-type, whereas those inheriting the paternal allele show postnatal lethality due to respiratory distress within 30 hours of birth
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homeostasis/metabolism
muscle
• hypotonia is observed a few minutes before death when the mutant allele is paternally inherited
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Prader-Willi syndrome | DOID:11983 |
OMIM:176270 |
J:57890 |