Phenotypes Associated with This Genotype

Genotype
MGI:3587788

• Allelic Composition: Ndst1^tm1Hgx/Ndst1^tm1Hgx
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:60280 )

• pups died within 10 hours of birth

respiratory system

abnormal type II pneumocyte morphology ( J:60280 )

• immature type II pneumocytes with glycogen accumulations, reduced numbers of lamellar bodies and attenuated microvilli

decreased alveolar lamellar body number ( J:60280 )

• reduced numbers of lamellar bodies in type II cells

atelectasis ( J:60280 )

• lungs fail to inflate at birth although branching morphology normal

thick pulmonary interalveolar septum ( J:60280 )

respiratory distress ( J:60280 )

• gasping breath

abnormal surfactant secretion ( J:60280 )

• less secreted surfactant protein but produced by more cells

homeostasis/metabolism

cyanosis ( J:60280 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
newborn respiratory distress syndrome		DOID:12716	OMIM:267450	J:60280