Phenotypes Associated with This Genotype

Genotype
MGI:2672093

• Allelic Composition: Krt10^tm1Tmm/Krt10^tm1Tmm
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * BALB/c * C57BL/6)

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

Krt10^tm1Tmm/Krt10^tm1Tmm mice show large areas of skin loss while Krt10^tm1Tmm/Krt10⁺ mice show hyperkeratotic scaling of the skin

mortality/aging

neonatal lethality, complete penetrance ( J:31853 )

• 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

abnormal skin morphology ( J:31853 )

• 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

abnormal epidermis stratum basale morphology ( J:31853 )

• homozygotes display a ~1.5- to 2-fold increase in basal cell proliferation relative to wild-type mice, as detected by BrdU staining

abnormal epidermis stratum corneum morphology ( J:31853 )

• 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

hyperkeratosis ( J:31853 )

• lesioned skin is significantly hyperkeratotic

abnormal epidermis stratum granulosum morphology ( J:31853 )

• 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

abnormal epidermis stratum spinosum morphology ( J:31853 )

• 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

acanthosis ( J:31853 )

• lesioned skin is significantly acanthotic

abnormal epidermis suprabasal layer morphology ( J:31853 )

• during preparation of frozen material, the suprabasal layer splits off from the basal layer, confirming the skin fragility observed in live mice

blistering ( J:31853 )

• homozygotes display blisters around the face, on the forepaws, and in various sites on the trunk

reddish skin ( J:31853 )

• homozygotes exhibit erythematous skin

• erythema is frequently observed on the ventral aspects of the umbilical as well as in other body regions

translucent skin ( J:31853 )

• the upper layers of lesioned skin are abnormally translucent

decreased skin tensile strength ( J:31853 )

• 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:PS113800	J:31853