Phenotypes Associated with This Genotype

Genotype
MGI:2653055

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:82266 )

• mice inheriting the mutant allele paternally die a few hours after birth

respiratory system

abnormal respiration ( J:82266 )

• the respiratory motor discharge pattern produced by cervical ventral roots, hypoglossal roots, cranial motoneuron pools and within neurons located in the putative respiratory rhythm-generating center, the pre-Botzinger complex, is very irregular in mice inheriting the mutant allele from the father, with prominent bouts of depression of respiratory rhythmogenesis

respiratory distress ( J:82266 )

• mice inheriting the mutant allele paternally gasp for air when born and turn cyanotic

hypoventilation ( J:82266 )

• mice inheriting the mutant allele paternally exhibit hypoventilation resulting from a defective central respiratory drive

cellular

maternal imprinting ( J:82266 )

homeostasis/metabolism

cyanosis ( J:82266 )

• in mutants with the paternally inherited allele

hypoxia ( J:82266 )

• in mutants with the paternally inherited allele

nervous system

abnormal central pattern generator function ( J:82266 )

• pups with abnormal breathing fail to generate rhythmic motor bursts from cervical or hypoglossal nerve roots in vitro or generate a severely irregular rhythmic motor output

abnormal pre-Botzinger complex physiology ( J:82266 )

• he respiratory motor discharge pattern produced by cervical ventral roots, hypoglossal roots, cranial motoneuron pools and within neurons located in the putative respiratory rhythm-generating center, the pre-Botzinger complex, is very irregular in mice inheriting the mutant allele from the father, with prominent bouts of depression of respiratory rhythmogenesis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:82266