Phenotypes Associated with This Genotype

Genotype
MGI:2672094

• Allelic Composition: Krt10^tm1Tmm/Krt10⁺
• 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

growth/size/body

scaly ears ( J:31853 )

decreased body weight ( J:31853 )

• at 3 months of age or later, the weight of heterozygotes is only 2/3 of wild-type littermates

limbs/digits/tail

abnormal autopod morphology ( J:31853 )

• from the third week on, most heterozygotes develop hyperkeratosis and scaling on their feet

• feet are covered with characteristic yellow crusts that heal without scarring

abnormal foot pad morphology ( J:31853 )

• aging heterozygotes have bristle pads that are susceptible to skin loss

abnormal tail morphology ( J:31853 )

• from the third week on, the tail is covered with a distinctive furrowed, wart-like skin

craniofacial

scaly ears ( J:31853 )

hearing/vestibular/ear

scaly ears ( J:31853 )

immune system

increased susceptibility to infection ( J:31853 )

• adult heterozygotes develop eye and skin infections more commonly than adult wild-type littermates

integument

abnormal skin morphology ( J:31853 )

hyperkeratosis ( J:31853 )

• hyperkeratosis is initially observed over the trunk region at the onset of hair growth, but generally improves thereafter

• from the third week on, most heterozygotes develop hyperkeratosis on the feet, ear and tail; the extent of hyperkeratosis increases with age

abnormal epidermis stratum granulosum morphology ( J:31853 )

• ultrastructurally, the granular layer displays alterations in the distribution of cytokeratin filament bundles, with areas of filament-free cytoplasm found adjacent to abnormal cytokeratin aggregates

• cytokeratin aggregates are predominantly found in the cell periphery, either close to the membrane or attached to desmosomes

• remnants of intermediate filaments are also associated with keratohyalin granules

abnormal epidermis stratum spinosum morphology ( J:31853 )

• ultrastructurally, the spinous layer displays alterations in the distribution of cytokeratin filament bundles, with areas of filament-free cytoplasm found adjacent to abnormal cytokeratin aggregates

• cytokeratin aggregates are predominantly found in the cell periphery, either close to the membrane or attached to desmosomes

• remnants of intermediate filaments are also associated with keratohyalin granules

• the intercellular space in the upper spinous and granular layer is significantly wider than normal

abnormal epidermis suprabasal layer morphology ( J:31853 )

• in heterozygotes, the non-lesional suprabasal forepaw epidermis is slighly acanthotic and hyperkeratotic with an increase in edematous cells relative to wild-type

• however, the basal layer appears unaffected

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

flaky skin ( J:31853 )

• heterozygotes display flaking of the tail, ear, and foot epidermis

reddish skin ( J:31853 )

• although apparently normal at birth, heterozygous pups occasionally display erythroderma on their forepaws

scaly skin ( J:31853 )

• from the third week on, most heterozygotes develop scaling of the skin on the paws, ears, and tail; the extent of scaling increases with age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolytic hyperkeratosis		DOID:4603	OMIM:PS113800	J:31853