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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cdc42ep1tm1Yxz
targeted mutation 1, Yixian Zheng
MGI:7384726
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cdc42ep1tm1Yxz/Cdc42ep1tm1Yxz B6.Cg-Cdc42ep1tm1Yzh MGI:7384810


Genotype
MGI:7384810
hm1
Allelic
Composition
Cdc42ep1tm1Yxz/Cdc42ep1tm1Yxz
Genetic
Background
B6.Cg-Cdc42ep1tm1Yzh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42ep1tm1Yxz mutation (0 available); any Cdc42ep1 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about half of mutants die between E16.5 and P0

cardiovascular system
• E16.5 vasculature is characterized by a lower surface area to volume ratio, suggesting that proper capillary network formation is compromised
• 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
• 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
• 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
• 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
• ventricular walls of hearts are thinner at E15.5

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

vision/eye
• however, filopodia and branching-point densities are not affected in the retina
• mild, but significant, reduction of the radial lengths of the capillary network in retinas at P2 and P6

embryo
N
• no obvious defects in the placenta

hematopoietic system
N
• no signs of anemia or liver discoloration are seen

reproductive system
N
• males and females are fertile





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory