About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5904617
Allelic
Composition
Casz1Gt(CJ0565)Wtsi/Casz1Gt(CJ0565)Wtsi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casz1Gt(CJ0565)Wtsi mutation (0 available); any Casz1 mutation (283 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Edema, heart failure, and heart abnormalities in E16.5 Casz1Gt(CJ0565)Wtsi/Casz1Gt(CJ0565)Wtsi fetuses

mortality/aging
• homozygotes die at E17.5, with no live embryos observed thereafter

homeostasis/metabolism
• edema at the back of the neck region at E15.5
• evidence of edema in some embryos at E14.5, although not as clear as at E15.5
• accumulation of fluid in subcutaneous regions at E16.5

cardiovascular system
• accumulation of blood cells in the liver at E15.5
• at E15.5, the compact myocardium (free wall) of both ventricles and the septum is hypoplastic; less pronounced at E14.5
• myocardium hypoplasia at E15.5
• at E15.5, the compact myocardium of both ventricles is hypoplastic
• significant myocardium thinning at E15.5
• abnormal heart development including cardiac noncompaction and ventricular septal defect
• transcriptome analysis of E12.5 hearts revealed abnormal expression of cardiac morphogenesis and contraction genes
• disorganized myofiber orientation and cell alignment in both the left ventricle and the right ventricle at E14.5
• at E15.5., the ventricular septum is thinner and less compact
• thinner ventricular septum at E15.5
• ventricle septal defects at E14.5
• altered heart shape at E14.5 and E16.5, with the left ventricle apex being spherical rather than triangular in shape
• large areas devoid of blood at E16.5
• >3-fold decrease in the fraction of pH3-positive cardiomyocytes at E14.5 relative to wild-type hearts
• however, no significant increase in the number of apoptotic cells is observed at E14.5

muscle
• at E15.5, the compact myocardium (free wall) of both ventricles and the septum is hypoplastic; less pronounced at E14.5
• myocardium hypoplasia at E15.5
• at E15.5, the compact myocardium of both ventricles is hypoplastic
• significant myocardium thinning at E15.5
• >3-fold decrease in the fraction of pH3-positive cardiomyocytes at E14.5 relative to wild-type hearts
• however, no significant increase in the number of apoptotic cells is observed at E14.5
• immunofluoresence analysis revealed that striated patterns of desmin labeling are not as uniform or obvious in cardiomyocytes of the trabecular region at E14.5, indicating sarcomeric disorganization
• in vitro, less than 50% of primary cardiomyocytes isolated from E14.5 hearts show a clear striated pattern of alpha-actinin labeling versus >80% in wild-type controls; no clear striated pattern is seen for F-actin labeling
• E14.5 cardiomyocytes, which lack a clear striated pattern, show an abnormal pattern of alpha-actinin staining, indicating abnormal Z line organization

immune system
• enlarged and disorganized lymphatic vessel morphogenesis in the back skin at E14.5
• however, sprouting lymphangiogenesis is normal at the lymphatic vascular front
• enlarged lymphatic network in the back skin at E14.5

liver/biliary system
• accumulation of blood cells in the liver at E15.5

growth/size/body
• edema at the back of the neck region at E15.5
• evidence of edema in some embryos at E14.5, although not as clear as at E15.5

integument
• edema at the back of the neck region at E15.5
• evidence of edema in some embryos at E14.5, although not as clear as at E15.5

cellular
• >3-fold decrease in the fraction of pH3-positive cardiomyocytes at E14.5 relative to wild-type hearts
• however, no significant increase in the number of apoptotic cells is observed at E14.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chromosome 1p36 deletion syndrome DOID:0060410 OMIM:607872
J:242127


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/10/2019
MGI 6.14
The Jackson Laboratory