Phenotypes Associated with This Genotype

Genotype
MGI:3622113

• Allelic Composition: Jup^tm1Kem/Jup^tm1Kem
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

growth/size/body

enlarged heart ( J:38047 )

• seen in mutants that survive to E17.5

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:38047 )

• 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 ( J:38047 )

• small placenta, with little blood supply

cardiovascular system

absent cardiac desmosomes ( J:38047 )

• at E12.5, hearts show reduced number of desmosomes, less dense plaques, and atypical appearance of desmogleas

trabecula carnea hypoplasia ( J:38047 )

thin myocardium ( J:38047 )

• heart wall is thin and weak

abnormal heart development ( J:38047 )

• heart is structurally less well developed by E10.5 and E112.5

abnormal atrioventricular cushion morphology ( J:38047 )

• poorly developed endocardial cushion

abnormal heart atrium morphology ( J:38047 )

• poorly developed atrial trabeculae

enlarged heart ( J:38047 )

• seen in mutants that survive to E17.5

hemopericardium ( J:38047 )

• coagulated blood is found in the pericardium

liver/biliary system

small liver ( J:38047 )

• small liver with a thin liver capsule and little blood supply

muscle

absent cardiac desmosomes ( J:38047 )

• at E12.5, hearts show reduced number of desmosomes, less dense plaques, and atypical appearance of desmogleas

trabecula carnea hypoplasia ( J:38047 )

thin myocardium ( J:38047 )

• heart wall is thin and weak

homeostasis/metabolism

hemopericardium ( J:38047 )

• coagulated blood is found in the pericardium

abnormal cardiac thrombosis ( J:38047 )

• coagulated blood is found in ventricles, atria, and pericardium

abnormal atrial thrombosis ( J:38047 )

abnormal ventricular thrombosis ( J:38047 )

impaired skin barrier function ( J:38047 )

• skin dires more quickly and seems more permeable

integument

integument phenotype ( J:38047 )

N • Background Sensitivity: homozygotes on the C57BL/6 background exhibit the following skin abnormalities at E17.5

impaired skin barrier function ( J:38047 )

• skin dires more quickly and seems more permeable

abnormal epidermal layer morphology ( J:38047 )

• 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

absent epidermis stratum corneum ( J:38047 )

abnormal epidermis stratum granulosum morphology ( J:38047 )

• dissociation of cells and almost no contacts between cells in the granular layer

• acantholysis and cytolysis in the granular layer

abnormal epidermis stratum spinosum morphology ( J:38047 )

• dissociation of cells in the upper spinous layer

• intercellular spaces between cells of the spinous layer are larger

acantholysis ( J:38047 )

• exhibit subcorneal acantholysis, the dissociation of cells in the granular and upper spinous layer

thin epidermis ( J:38047 )

blistering ( J:38047 )

• superficial layer of the epidermis in snout, cheek, paws, and tail region is detached leading to regions with blister formation

decreased skin tensile strength ( J:38047 )

• 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:PS113800	J:38047