Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt2tm1a(KOMP)Wtsi mutation
(1 available);
any
Krt2 mutation
(47 available)
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integument
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• upper suprabasal cells contain characteristic large keratohyalin granules of various shapes
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• decrease in the abundance of cytoplasmic keratin filament bundles in suprabasal cells of the ear skin
• the cytoplasm of suprabasal cells is rather electron-lucent with short, compact keratin filament bundles closely associated with desmosomes
• keratinocytes contain large poriferous keratin aggregates that are strongly positive for keratin 10 (K10) and often associated with desmosmes via filaments and regularly embedding mitochondria
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• increase in the number of epidermal cell layers in the ear skin
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt2tm1a(KOMP)Wtsi mutation
(1 available);
any
Krt2 mutation
(47 available)
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integument
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• keratinocytes differentiate in a somewhat disorganized fashion
• significant alterations in the expression levels of other cytoskeletal proteins resulting in aggregation of type I keratin K10 in the ear epidermis
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• drastically enhanced keratinocyte proliferation in the ear epidermis, with virtually every basal layer cell and some parabasal keratinocytes found to be immunopositive for Ki67
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• ears are more pigmented than those of wild-type control mice
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• 2-fold increase in transepidermal water loss in the ear skin relative to wild-type controls, leading to weakening of the epidermal barrier and skin inflammation
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• inflammatory infiltration in the ear skin but not in the skin of the back, tail, or soles
• massively increased expression levels of thymic stromal lymphopoietin and IL-18 mRNAs but normal abundance of TNF mRNA in ear skin
• significantly elevated numbers of T cells and mast cells in the ear skin relative to wild-type controls
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• only 60% of corneocytes are normally shaped in mutant ear skin relative to ~80% in wild-type controls
• ~40% of corneocytes are severely misshapen or fragmented relative to ~20% in wild-type controls
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• mice develop hyperkeratotic calluses on the soles and toe pads within the first 6 weeks of life
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• prominent orthokeratotic hyperkeratosis in the epidermis of the ear and to a lesser extent in the epidermis of the tail and palm skin
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• the granular layer is markedly thickened in ear skin
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• keratinocytes accumulate large coalescent keratohyalin granules
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• prominent acanthosis in the epidermis of the ear and to a lesser extent in the epidermis of the tail and palm skin
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• in ear skin, the number of nucleated suprabasal layers is increased to 7-8 from 1-2 in wild-type and heterozygous controls
• a significant portion of suprabasal keratinocytes lack a regular cytoskeleton and develop massive aggregates of the type I keratin 10 (K10)
• occasionally, focal suprabasal cytolysis is observed
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• mice develop scaly skin on the ears within the first 6 weeks of life
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homeostasis/metabolism
immune system
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• inflammatory infiltration in the ear skin but not in the skin of the back, tail, or soles
• massively increased expression levels of thymic stromal lymphopoietin and IL-18 mRNAs but normal abundance of TNF mRNA in ear skin
• significantly elevated numbers of T cells and mast cells in the ear skin relative to wild-type controls
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pigmentation
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• ears are more pigmented than those of wild-type control mice
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cellular
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• keratinocytes differentiate in a somewhat disorganized fashion
• significant alterations in the expression levels of other cytoskeletal proteins resulting in aggregation of type I keratin K10 in the ear epidermis
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• drastically enhanced keratinocyte proliferation in the ear epidermis, with virtually every basal layer cell and some parabasal keratinocytes found to be immunopositive for Ki67
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craniofacial
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• ears are more pigmented than those of wild-type control mice
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growth/size/body
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• ears are more pigmented than those of wild-type control mice
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hearing/vestibular/ear
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• ears are more pigmented than those of wild-type control mice
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integument
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• upper suprabasal cells contain characteristic large keratohyalin granules of various shapes
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• decrease in the abundance of cytoplasmic keratin filament bundles in suprabasal cells of the ear skin
• keratinocytes lack keratin aggregates, unlike in single homozygotes
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• increase in the number of epidermal cell layers in the ear skin
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• mice develop scaly skin on their ears
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Analysis Tools