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Phenotypes Associated with This Genotype
Genotype
MGI:3622113
Allelic
Composition
Juptm1Kem/Juptm1Kem
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Juptm1Kem mutation (1 available); any Jup mutation (126 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: about 50% die between E9.5 and E12.5, with the proportion of dead mutants increasing from E12.5 onward, especially on the 129/Sv background, while some survive longer (to E17.5) on the C57BL/6 background

embryo
• small placenta, with little blood supply

cardiovascular system
• at E12.5, hearts show reduced number of desmosomes, less dense plaques, and atypical appearance of desmogleas
• heart wall is thin and weak
• heart is structurally less well developed by E10.5 and E112.5
• poorly developed endocardial cushion
• poorly developed atrial trabeculae
• seen in mutants that survive to E17.5
• coagulated blood is found in the pericardium

liver/biliary system
• small liver with a thin liver capsule and little blood supply

muscle
• at E12.5, hearts show reduced number of desmosomes, less dense plaques, and atypical appearance of desmogleas
• heart wall is thin and weak

homeostasis/metabolism
• coagulated blood is found in the pericardium
• coagulated blood is found in ventricles, atria, and pericardium
• skin dires more quickly and seems more permeable

integument
N
• Background Sensitivity: homozygotes on the C57BL/6 background exhibit the following skin abnormalities at E17.5
• skin dires more quickly and seems more permeable
• superficial layer of the epidermis in snout, cheek, paws, and tail region is detached
• tonofilaments are retracted from desmosomal plaques and have an irregular pattern
• desmosomes are reduced by a factor of 15-20 and structurally altered
• numerous keratohyalin granules are mislocalized around nuclei
• dissociation of cells and almost no contacts between cells in the granular layer
• acantholysis and cytolysis in the granular layer
• dissociation of cells in the upper spinous layer
• intercellular spaces between cells of the spinous layer are larger
• exhibit subcorneal acantholysis, the dissociation of cells in the granular and upper spinous layer
• superficial layer of the epidermis in snout, cheek, paws, and tail region is detached leading to regions with blister formation
• skin is extremely sensitive to mechanical stress such as rubbing and cutting

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
epidermolytic hyperkeratosis DOID:4603 OMIM:113800
J:38047


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
09/10/2019
MGI 6.14
The Jackson Laboratory