Phenotypes Associated with This Genotype

Genotype
MGI:5584173

• Allelic Composition: Del(XNxf2-Nxf3)1Jw/Y
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB

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

mortality/aging

neonatal lethality, complete penetrance ( J:210663 )

♂ • neonatal lethality in all male pups

♂ • all E18.5 male pups delivered by cesarean section develop asphyxia and die immediately after delivery

craniofacial

complete cleft palate ( J:210663 )

♂ • all males exhibit complete cleft palate at E18.5

♂ • palatal shelves form at E13.5 but they remain separate without any signs of fusion at E15.5

respiratory system

abnormal lung development ( J:210663 )

♂ • from E17.5 onward, lung development is delayed, with lungs developing less septation with thicker interstitial mesenchymal walls

abnormal lung-associated mesenchyme development ( J:210663 )

♂ • from E17.5, lungs show thicker interstitial mesenchymal walls

pulmonary hypoplasia ( J:210663 )

♂ • severe pulmonary hypoplasia

respiratory failure ( J:210663 )

♂ • all E18.5 male pups delivered by cesarean section develop asphyxia and die immediately after delivery, indicating acute respiratory failure

growth/size/body

complete cleft palate ( J:210663 )

♂ • all males exhibit complete cleft palate at E18.5

♂ • palatal shelves form at E13.5 but they remain separate without any signs of fusion at E15.5

digestive/alimentary system

complete cleft palate ( J:210663 )

♂ • all males exhibit complete cleft palate at E18.5

♂ • palatal shelves form at E13.5 but they remain separate without any signs of fusion at E15.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosomal deletion syndrome		DOID:0060388		J:210663