Phenotypes associated with this allele

• Allele Symbol: Ndn^tm2Stw
• Allele Name: targeted mutation 2, Colin L Stewart
• Allele ID: MGI:2653048
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ndn^tm2Stw/Ndn^+	involves: 129S1/Sv * C57BL/6	MGI:2654656
ht2	Ndn^tm2Stw/Ndn^+	involves: 129S1/Sv * C57BL/6J	MGI:2653055

Genotype
MGI:2654656

ht1

• 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

Genotype
MGI:2653055

ht2

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

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