Phenotypes Associated with This Genotype

Genotype
MGI:3833377

• Allelic Composition: Fras1^tm1Chpk/Fras1^tm1Chpk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * NMRI

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

Defective septation of right lung lobes in Fras1^tm1Chpk/Fras1^tm1Chpk embryos

respiratory system

abnormal lung morphology ( J:137010 )

• embryonic lung shows basement membrane distortions

• endothelial cells are locally detached from the basement membrane in the terminal sacs

• extravasation of erythrocytes into the embryonic respiratory lumen

abnormal lung vasculature morphology ( J:137010 )

• disarrangement of blood capillaries in the terminal air sacs of the lungs

abnormal lung development ( J:137010 )

• lobar septation defects are observed throughout embryogenesis and adulthood

abnormal lung epithelium morphology ( J:137010 )

• local disruptions of epithelial-endothelial contacts

fused right lung lobes ( J:137010 )

• mutants exhibit completely or partially fused right lung lobes resulting from incomplete separation during development

cardiovascular system

abnormal lung vasculature morphology ( J:137010 )

• disarrangement of blood capillaries in the terminal air sacs of the lungs

cellular

abnormal basement membrane morphology ( J:137010 )

• embryonic lung shows basement membrane distortions

• basement membranes between endothelial and epithelial type I cells in the lung appear wider and less dense compared with wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:137010