Phenotypes associated with this allele

• Allele Symbol: Ndn^tm1Stw
• Allele Name: targeted mutation 1, Colin L Stewart
• Allele ID: MGI:2653045
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ndn^tm1Stw/Ndn^+	involves: 129S1/Sv * C3H/He * C57BL/6	MGI:2653054
ht2	Ndn^tm1Stw/Ndn^+	involves: 129S1/Sv * C57BL/6	MGI:2653050
ht3	Ndn^tm1Stw/Ndn^+	involves: 129S1/Sv * C57BL/6 * CBA	MGI:4365458
ht4	Ndn^tm1Stw/Ndn^+	involves: 129S1/Sv * FVB	MGI:2653051

Genotype
MGI:2653054

ht1

• Allelic Composition: Ndn^tm1Stw/Ndn⁺
• Genetic Background: involves: 129S1/Sv * C3H/He * C57BL/6

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

mortality/aging

postnatal lethality ( J:57890 )

• Background Sensitivity: when chimeric males are bred with (C57BL/6 x C3H)F1 hybrid females, lethality is reduced to wild-type levels

• Background Sensitivity: when homozygous males on the [(C57BL/6 x C3H)F1 x 129S1/Sv] background are mated with C57BL/6 wild-type females, offspring again show high incidence (65%) of mortality

Genotype
MGI:2653050

ht2

• Allelic Composition: Ndn^tm1Stw/Ndn⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

mortality/aging

decreased survivor rate ( J:57890 )

• 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

postnatal lethality ( J:57890 )

• 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

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 drops 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 postnatal lethality due to respiratory distress within 30 hours of birth

homeostasis/metabolism

cyanosis ( J:57890 )

• observe 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:4365458

ht3

• Allelic Composition: Ndn^tm1Stw/Ndn⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

mortality/aging

mortality/aging ( J:57890 )

N • Background Sensitivity: when chimeric males are bred with (C57BL/6 x CBA)F1 hybrid females, lethality is reduced to wild-type levels

Genotype
MGI:2653051

ht4

• Allelic Composition: Ndn^tm1Stw/Ndn⁺
• Genetic Background: involves: 129S1/Sv * FVB

mortality/aging

postnatal lethality ( J:57890 )

• Background Sensitivity: when chimeric males are bred with wild-type FVB females, lethality declines from 80% (on a C57BL/6 background) to 25% of mutant offspring, and males are more affected than females

respiratory system

respiratory distress ( J:57890 )

cellular

maternal imprinting ( J:57890 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:57890