Phenotypes Associated with This Genotype

Genotype
MGI:6461135

• Allelic Composition: Cdc42bpb^em1(IMPC)J/Cdc42bpb⁺
• Genetic Background: C57BL/6NJ-Cdc42bpb^em1(IMPC)J/J

Data Sources

IMPC Data for Cdc42bpb

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

embryo

abnormal embryo size ( J:211773 )

IMPC - JAX

decreased embryo size ( J:394310 )

• at E18.5 homozygous embryos are smaller than normal with minor hemorrhaging

respiratory system

abnormal lung development ( J:394310 )

• distal edges and accessory lobe horn of the lung appear blunted even though lung volume is normal in microCT scans

cardiovascular system

ventricular septal defect ( J:394310 )

• At E18.5 9 of 9 embryos were found to have ventricular septation defects

muscle

abnormal diaphragm morphology ( J:394310 )

abnormal diaphragm development ( J:394310 )

• as early as E14.5 there is a significant distance from the ventral leading edges between the migrating developing muscle groups of the developing diaphragm on the left and right side of the embryo

diaphragmatic hernia ( J:394310 )

• Incomplete closure of the diaphragm with minor eventration of the liver, with the herniation located ventrally, a phenotype not found in the heterozygote

growth/size/body

abnormal embryo size ( J:211773 )

IMPC - JAX

decreased embryo size ( J:394310 )

• at E18.5 homozygous embryos are smaller than normal with minor hemorrhaging

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:394310