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Phenotypes Associated with This Genotype
Genotype
MGI:2672093
Allelic
Composition
Krt10tm1Tmm/Krt10tm1Tmm
Genetic
Background
either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt10tm1Tmm mutation (2 available); any Krt10 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Krt10tm1Tmm/Krt10tm1Tmm mice show large areas of skin loss while Krt10tm1Tmm/Krt10+ mice show hyperkeratotic scaling of the skin

mortality/aging
• homozygotes are born with little or no apparent skin damage but die within a few hours of birth with no milk in their stomachs

integument
• one-day old homozygotes exhibit large areas of skin loss
• skin loss is frequently observed on the ventral aspects of the umbilical as well as in other body regions (e.g. forepaws)
• the extent of skin loss is highly variable, even within the same litter; this variability is partly attributed to persistent grooming by the mother or other mice
• homozygotes display a ~1.5- to 2-fold increase in basal cell proliferation relative to wild-type mice, as detected by BrdU staining
• the transition zone between granular and cornified layers is significantly broader than normal
• many cells in the lower most stratum corneum are incompletely cornified and their cytoplasm contains remnant organelles with a dappled pattern of electron-lucent and electron-dense areas
• lesioned skin is significantly hyperkeratotic
• ultrastructurally, many granular cells display intracellular edema formation and are lysed
• the number of cytokeratin filament bundles is significantly reduced
• cytokeratin aggregates are markedly smaller in homozygous than in heterozygous mutants and show a tendency to round up
• some of the remaining cytokeratin bundles display short wire-like filaments, while others are inconspicuous and tend to be associated with desmosomes or close to the plasma membrane
• the continuity of cytosplasmic intermediate filaments is severely disrupted
• the transition zone between granular and cornified layers is significantly broader than normal
• ultrastructurally, many spinous cells display intracellular edema formation and are lysed
• the number of cytokeratin filament bundles is significantly reduced
• cytokeratin aggregates are markedly smaller in homozygous than in heterozygous mutants and show a tendency to round up
• some of the remaining cytokeratin bundles display short wire-like filaments, while others are inconspicuous and tend to be associated with desmosomes or close to the plasma membrane
• the continuity of cytosplasmic intermediate filaments is severely disrupted
• lesioned skin is significantly acanthotic
• during preparation of frozen material, the suprabasal layer splits off from the basal layer, confirming the skin fragility observed in live mice
• homozygotes display blisters around the face, on the forepaws, and in various sites on the trunk
• homozygotes exhibit erythematous skin
• erythema is frequently observed on the ventral aspects of the umbilical as well as in other body regions
• the upper layers of lesioned skin are abnormally translucent
• homozygotes exhibit very fragile skin with severe erosions

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
epidermolytic hyperkeratosis DOID:4603 OMIM:113800
J:31853


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
09/07/2021
MGI 6.17
The Jackson Laboratory