Phenotypes associated with this allele

• Allele Symbol: Cdc42ep1^tm1Yxz
• Allele Name: targeted mutation 1, Yixian Zheng
• Allele ID: MGI:7384726
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cdc42ep1^tm1Yxz/Cdc42ep1^tm1Yxz	B6.Cg-Cdc42ep1^tm1Yzh	MGI:7384810

Genotype
MGI:7384810

hm1

• Allelic Composition: Cdc42ep1^tm1Yxz/Cdc42ep1^tm1Yxz
• Genetic Background: B6.Cg-Cdc42ep1^tm1Yzh

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:310382 )

• about half of mutants die between E16.5 and P0

cardiovascular system

abnormal blood vessel morphology ( J:310382 )

• E16.5 vasculature is characterized by a lower surface area to volume ratio, suggesting that proper capillary network formation is compromised

decreased capillary density ( J:310382 )

• capillary density is reduced in E14.5 to E16.5 hearts

• the number of capillary structures in a given heart volume is reduced at E16.5

abnormal retina blood vessel morphology ( J:310382 )

• mild, but significant, reduction of the radial lengths of the capillary network in retinas at P2 and P6

• however, filopodia and branching-point densities are not affected in the retina

abnormal angiogenesis ( J:310382 )

• persistent directional migration of primary mouse cardiac endothelial cells (MCECs) is reduced and capillary density is reduced in E14.5-E16.5 hearts, indicating abnormal microvascular angiogenesis

abnormal heart morphology ( J:310382 )

• capillary density is reduced in E14.5 to E16.5 hearts, however hearts are normal at E12.5

• only about 5% of MCECs exhibit organized perinuclear actin fibers compared to about 60% of wild-type MCECs and colocalization of septin filaments and F-actin in the perinuclear region is reduced

• MCECs show a loss of the perinuclear septin patch and parallel actin fibers, and of organized phosphorylated myosin light chain staining in the perinuclear region

• however, MCECs from adult hearts show no defect in proliferation in vitro, attach to coverslips and are able to form adherens junctions, and exhibit similar centrosome/Golgi positioning after scratch wounding

thin ventricular wall ( J:310382 )

• ventricular walls of hearts are thinner at E15.5

cellular

decreased cell migration ( J:310382 )

• in a heart explant model, mouse cardiac endothelial cells (MCECs) show a reduction in persistent directional migration and reduced migration speed

• MCECs exhibit a reduction in persistent directional migration during in vitro scratch wound-healing migration, however MCECs migrate faster than wild-type MCECs in two-dimensional assay

• in a heart explant model, sprouts formed by mutant hearts are shorter than in control explants

growth/size/body

decreased body weight ( J:310382 )

• mice that survive beyond P0 exhibit reduced body weight from birth to adulthood

vision/eye

abnormal retina blood vessel morphology ( J:310382 )

• mild, but significant, reduction of the radial lengths of the capillary network in retinas at P2 and P6

• however, filopodia and branching-point densities are not affected in the retina

embryo

embryo phenotype ( J:310382 )

N • no obvious defects in the placenta

hematopoietic system

hematopoietic system phenotype ( J:310382 )

N • no signs of anemia or liver discoloration are seen

reproductive system

reproductive system phenotype ( J:310382 )

N • males and females are fertile