Phenotypes Associated with This Genotype

Genotype
MGI:3717470

• Allelic Composition: Abca3^tm1Holz/Abca3^tm1Holz
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:122736 )

• die within 1 hour of birth

respiratory system

abnormal type II pneumocyte morphology ( J:122736 )

• lack normal-appearing lamellar bodies

abnormal alveolar lamellar body morphology ( J:122736 )

• defective lamellar bodies; condensed structures with apparent absence of lipid content are observed

atelectasis ( J:122736 )

• fail to inflate lungs after birth

respiratory distress ( J:122736 )

• display gasping immediately after birth

respiratory failure ( J:122736 )

abnormal surfactant physiology ( J:122736 )

• absence of alveolar deposition of surfactant

homeostasis/metabolism

cyanosis ( J:122736 )

• become cyanotic immediately after birth

behavior/neurological

lethargy ( J:122736 )

• reduced motor activity immediately after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary alveolar proteinosis		DOID:12120	OMIM:265120 OMIM:300770 OMIM:610913 OMIM:610921 OMIM:614370	J:122736