Phenotypes associated with this allele

• Allele Symbol: Krt2^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4363845
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Krt2^tm1a(KOMP)Wtsi/Krt2^tm1a(KOMP)Wtsi	involves: 129P2/OlaHsd * BALB/c * C57BL/6N	MGI:5800450
hm2	Krt2^tm1a(KOMP)Wtsi/Krt2^tm1a(KOMP)Wtsi	involves: C57BL/6N	MGI:5800438
cx3	Krt2^tm1a(KOMP)Wtsi/Krt2^tm1a(KOMP)Wtsi Krt10^tm2Tmm/Krt10^tm2Tmm	involves: 129P2/OlaHsd * BALB/c * C57BL/6N	MGI:5800445

Genotype
MGI:5800450

hm1

• Allelic Composition: Krt2^{tm1a(KOMP)Wtsi}/Krt2^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6N
• Cell Lines: EPD0207_3_E04

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

integument

hypergranulosis ( J:214772 )

• upper suprabasal cells contain characteristic large keratohyalin granules of various shapes

abnormal epidermis suprabasal layer morphology ( J:214772 )

• 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

epidermal hyperplasia ( J:214772 )

• increase in the number of epidermal cell layers in the ear skin

Genotype
MGI:5800438

hm2

• Allelic Composition: Krt2^{tm1a(KOMP)Wtsi}/Krt2^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0207_3_E04

integument

abnormal keratinocyte differentiation ( J:214772 )

• 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

increased keratinocyte proliferation ( J:214772 )

• drastically enhanced keratinocyte proliferation in the ear epidermis, with virtually every basal layer cell and some parabasal keratinocytes found to be immunopositive for Ki67

increased ear pigmentation ( J:214772 )

• ears are more pigmented than those of wild-type control mice

impaired skin barrier function ( J:214772 )

• 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

skin inflammation ( J:214772 )

• 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

abnormal corneocyte morphology ( J:214772 )

• 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

hyperkeratosis ( J:214772 )

• mice develop hyperkeratotic calluses on the soles and toe pads within the first 6 weeks of life

orthokeratosis ( J:214772 )

• prominent orthokeratotic hyperkeratosis in the epidermis of the ear and to a lesser extent in the epidermis of the tail and palm skin

thick epidermis stratum granulosum ( J:214772 )

• the granular layer is markedly thickened in ear skin

hypergranulosis ( J:214772 )

• keratinocytes accumulate large coalescent keratohyalin granules

acanthosis ( J:214772 )

• prominent acanthosis in the epidermis of the ear and to a lesser extent in the epidermis of the tail and palm skin

abnormal epidermis suprabasal layer morphology ( J:214772 )

• 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

scaly skin ( J:214772 )

• mice develop scaly skin on the ears within the first 6 weeks of life

homeostasis/metabolism

impaired skin barrier function ( J:214772 )

• 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

immune system

skin inflammation ( J:214772 )

• 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

pigmentation

increased ear pigmentation ( J:214772 )

• ears are more pigmented than those of wild-type control mice

cellular

abnormal keratinocyte differentiation ( J:214772 )

• 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

increased keratinocyte proliferation ( J:214772 )

• drastically enhanced keratinocyte proliferation in the ear epidermis, with virtually every basal layer cell and some parabasal keratinocytes found to be immunopositive for Ki67

craniofacial

increased ear pigmentation ( J:214772 )

• ears are more pigmented than those of wild-type control mice

growth/size/body

increased ear pigmentation ( J:214772 )

• ears are more pigmented than those of wild-type control mice

hearing/vestibular/ear

increased ear pigmentation ( J:214772 )

• ears are more pigmented than those of wild-type control mice

Genotype
MGI:5800445

cx3

• Allelic Composition: Krt2^{tm1a(KOMP)Wtsi}/Krt2^{tm1a(KOMP)Wtsi}; Krt10^tm2Tmm/Krt10^tm2Tmm
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6N
• Cell Lines: EPD0207_3_E04

integument

hyperkeratosis ( J:214772 )

hypergranulosis ( J:214772 )

• upper suprabasal cells contain characteristic large keratohyalin granules of various shapes

abnormal epidermis suprabasal layer morphology ( J:214772 )

• decrease in the abundance of cytoplasmic keratin filament bundles in suprabasal cells of the ear skin

• keratinocytes lack keratin aggregates, unlike in single homozygotes

epidermal hyperplasia ( J:214772 )

• increase in the number of epidermal cell layers in the ear skin

scaly skin ( J:214772 )

• mice develop scaly skin on their ears