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Phenotypes Associated with This Genotype
Genotype
MGI:2672094
Allelic
Composition
Krt10tm1Tmm/Krt10+
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 (10 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

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

limbs/digits/tail
• 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
• aging heterozygotes have bristle pads that are susceptible to skin loss
• from the third week on, the tail is covered with a distinctive furrowed, wart-like skin

craniofacial

hearing/vestibular/ear

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

integument
• 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
• 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
• 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
• 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
• heterozygotes display flaking of the tail, ear, and foot epidermis
• although apparently normal at birth, heterozygous pups occasionally display erythroderma on their forepaws
• 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:113800
J:31853


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory