Phenotypes associated with this allele

• Allele Symbol: Zswim8^em#Dpbl
• Allele Name: endonuclease-mediated mutation, David P Bartel
• Allele ID: MGI:7539525
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zswim8^em#Dpbl/Zswim8^em#Dpbl	C57BL/6J-Zswim8^em#Dpbl	MGI:7541148

Genotype
MGI:7541148

hm1

• Allelic Composition: Zswim8^em#Dpbl/Zswim8^em#Dpbl
• Genetic Background: C57BL/6J-Zswim8^em#Dpbl

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

mortality/aging

perinatal lethality, complete penetrance ( J:338969 )

• the expected Mendelian ratios of homozygotes are seen at E18.5 and on the day of birth (P0), however no homozygous offspring are obtained at weaning and further analysis shows that many, but not all, P0 neonates are dead and those that are alive at P0, die within several hours, often following a period of agonal breathing

growth/size/body

decreased birth body size ( J:338969 )

• most P0 neonates appear smaller

decreased fetal size ( J:338969 )

• E18.5 fetuses are approximately 22% lighter than wild-type

respiratory system

abnormal lung saccule morphology ( J:338969 )

• lungs of E18.5 mutants have a reduction in total airspace and fail to undergo airspace expansion in the alveolar compartment despite possessing approximately normal proportions of AT1 and AT2 cells and this defect persists to E19.5, suggesting that proper saccular development is impeded through the time of birth

• UMAP analysis of scRNA-seq data indicates improper maturation of alveolar epithelial cells with failure of AT1 and AT2 precursors to properly differentiate into their mature forms after E17.5, causing a block in sacculation

respiratory distress ( J:338969 )

• neonates exhibit respiratory distress

homeostasis/metabolism

cyanosis ( J:338969 )

• nearly all P0 neonates, weather alive or dead, appear cyanotic

cardiovascular system

ventricular septal defect ( J:338969 )

• ventricular septal defects are seen in 3 of 4 E18.5 mutants