Phenotypes Associated with This Genotype

Genotype
MGI:2654656

• Allelic Composition: Ndn^tm2Stw/Ndn⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality ( J:57890 )

• mice inheriting the paternal allele exhibit 98% lethality within 30 hours of birth

respiratory system

respiratory distress ( J:57890 )

• 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

maternal imprinting ( J:57890 )

• 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

cyanosis ( J:57890 )

• observed in mice inheriting the mutant allele from the father

muscle

hypotonia ( J:57890 )

• 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