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Phenotypes Associated with This Genotype
Genotype
MGI:2653050
Allelic
Composition
Ndntm1Stw/Ndn+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndntm1Stw mutation (0 available); any Ndn mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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%)

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

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

homeostasis/metabolism
• observe 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
DO ID OMIM ID(s) Ref(s)
Prader-Willi syndrome DOID:11983 OMIM:176270
J:57890


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory