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 (344 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
• accumulation of fluid in subcutaneous regions at E16.5

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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory