Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tg(KRT5-cre)1Tak transgene insertion 1, Junji Takeda MGI:1926815 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Summary |
28 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• normal thymus and spleen weight and cellularity
• comparable T- and B-cells populations in spleen
• normal T-cell activation, differentiation and proliferation in vitro
• normal delayed type hypersensitivity
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal follicle morphology and stem cell persistence
|
|
• mice exhibit a striped coat pattern with increasing stripe number as mice age
|
|
• abnormally smooth transition through the hair cycle phases
|
|
• early onset of the second hair cycle anagen
|
|
• shorter duration than in control mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• perinatal and early postnatal lethality is normal
|
|
• in tail and ear skin of older mice
|
| N |
• hair growth and skin pigmentation are normal
|
|
• in tail and ear skin of older mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• although born in Mendelian ratios, only 8% of mice reach P3
|
|
• in 72% of mice, palate epithelium is dysplastic in areas with nuclear atypia and areas of hyperkeratosis
|
|
• in 78% of mice, tongue epithelium is dysplastic with lack of filiform papillae and severe hyperkeratosis
|
|
• absent
|
|
• one mouse exhibited a collapsed lumen filled with lamellate keratin
|
|
• hyperkeratosis and dysplasia of the esophagus in 17% of mice
|
|
• in 22% of mice, the non-glandular stomach exhibit dysplasia with nuclear pleomorphism and collapsed lumen with lamellate keratin
|
|
• in 72% of mice, palate epithelium is dysplastic in areas with nuclear atypia and areas of hyperkeratosis
|
|
• in 78% of mice, tongue epithelium is dysplastic with lack of filiform papillae and severe hyperkeratosis
|
|
• absent
|
|
• after birth, mice fail to gain weight after birth
|
|
• after birth, mice fail to gain weight after birth
|
|
• in 72% of mice, palate epithelium is dysplastic in areas with nuclear atypia and areas of hyperkeratosis
|
|
• in 78% of mice, tongue epithelium is dysplastic with lack of filiform papillae and severe hyperkeratosis
|
|
• absent
|
|
• keratinocytes exhibit increased DNA damage foci specifically localized to the telomeres compared to in wild-type cells
|
|
• skin cells exhibit no telomere shortening unlike in wild-type cells
|
|
• mice exhibit mixed inflammatory infiltration in the dermis
|
|
• severe skin hyperpigmentation
|
|
• skin cells exhibit no telomere shortening unlike in wild-type cells
• mice exhibit skin and follicular papillary atrophy
|
|
• the stratified epithelia of the tongue, palate, esophagus, and nongrandular stomach exhibit severe hyperkeratosis and dysplasia unlike in wild-type mice
|
|
• severe skin hyperpigmentation
|
|
• proliferation of skin cells is decreased compared to in wild-type mice with an arrest in G2/M
• epidermal stem cells fail to form colonies in an clonogenic assay unlike wild-type cells
|
|
• mice exhibit mixed inflammatory infiltration in the dermis
|
|
• keratinocytes fail to form colonies in an clonogenic assay unlike wild-type cells
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• dacroadenitis
|
|
• periocular disease
|
|
• dacroadenitis
|
|
• lymphocyte infiltrating periocular dermatitis
|
|
• keratinocyte migration is impaired
|
|
• lymphocyte infiltrating periocular dermatitis
|
|
• mice exhibit small clustering of matrix cells, which resemble undifferentiated hair germs, distorted or curved hair shafts or gigantic hair bulbs with bizarre shapes
|
|
• unlike in wild-type mice the second anagen does not occur
|
|
• mice exhibit skin ulcerations that worsen with age
|
|
• during the late anagen stage mice exhibit dermal fibrosis with inflammatory infiltrate and atrophic change in adipose tissue
|
|
• dacroadenitis
|
|
• keratinocyte migration is impaired
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice die 1 to 3 days after birth of malnutrition likely due to the inability to intake food because of oral cavity blistering
|
|
• mice exhibit reduced weight gain during their short lifespan
|
|
• after the initial intake of milk, subsequent intakes were impaired and mice die with empty stomachs
|
|
• as revealed by a dye transfer experiment, skin barrier function is impaired
• mice loss 3.5-fold more water than control Plec1tm4Gwi homozygotes through transepidermal water loss
• following mechanical stress (tape stripping), mice exhibit blistering and dye penetration indicative of induced lesions that were not observed in control Plec1tm4Gwi homozygotes
|
|
• as revealed by a dye transfer experiment, skin barrier function is impaired
• mice loss 3.5-fold more water than control Plec1tm4Gwi homozygotes through transepidermal water loss
• following mechanical stress (tape stripping), mice exhibit blistering and dye penetration indicative of induced lesions that were not observed in control Plec1tm4Gwi homozygotes
|
|
• mice exhibit microblisters and large blisters (up to 1 cm2) on the upper extremities and in the armpits
• blisters form between the dermis and superficial epidermal layers
• blisters form in the oral cavity on the palates and tongue
• however, no blisters are found on the proximal esophagus
• mice subjected to skin mechanical stress form blisters while control Plec1tm4Gwi homozygotes do not
|
|
• mice exhibit microlesions at various stages of wound healing
• following mechanical stress (tape stripping), mice exhibit blistering and dye penetration indicative of induced lesions that were not observed in control Plec1tm4Gwi homozygotes
|
|
• mice exhibit severe skin detachment on the fore- and hindlimb, occasionally around the mouth and nasal cavities, and rarely aplasia cutis (absence of skin)
• mice have fragile skin that is susceptible to mechanical stress injuries such as blisters and microlesions
• however, epidermal stratification and differentiation are normal as is keratinocyte proliferation and survival
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants are born alive but die shortly after birth
|
|
• defect is fatal leading to rapid dehydration and neonatal death
|
|
• proliferation in epidermis is reduced with mitotic cells reduced to 50% of total; BrdU-labeled cells in epidermis are reduced by 54%, with labeled cells residing in the basal layer
|
|
• defect is fatal leading to rapid dehydration and neonatal death
|
|
• epidermis consists of 4 or less layers with nucleated cells frequently found in the uppermost cell layer at E18.5
|
|
• cornified layer is not well defined at E18.5
|
|
• granular layer is not well defined at E18.5
|
|
• thinner than in heterozygotes
|
|
• mutant skin is erythemic at E18.5
|
|
• at E18.5, mutant skin appears moist compared to heterozygous littermates
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike mice homozygous for Lgr4tm1.2Knis no embryonic or neonatal lethality is detected
|
|
• seen in all mutant mice
|
| N |
• unlike mice homozygous for Lgr4tm1.2Knis body size and organ weights are normal
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• females exhibit a slight acanthosis compared to wild-type
|
|
|
• scaly skin appears in females at about 4 days after birth
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• mice show an increase in transepidermal water loss across skin explants
|
|
|
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
• however, structure of corneocytes, including the cornified envelope, is normal
|
|
|
• lamellar membrane structures in stratum corneum are shortened, distorted, and replaced by incompletely processed, lamellar body-derived materials
• most lamellar bodies in the stratum granulosum layer of the epidermis display abnormalities in size and/or internal contents, indicating an abnormality in lamellar body formation
• however, overall numbers of lamellar bodies appear normal
|
|
|
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
|
|
|
• high-frequency, skin-surface conductance is lower indicating reduced stratum corneum hydration
|
|
|
• mice show an increase in transepidermal water loss across skin explants
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive congenital ichthyosis 4B | DOID:0060713 |
OMIM:242500 |
J:91794 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Epidermal morphology of wild type and Pigatm1Tak/Y Tg(KRT5-cre)1Tak mice
 |
• males die at 1-3 days after birth
|
|
|
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
|
|
|
• high-frequency, skin-surface conductance is lower indicating reduced stratum corneum hydration
|
|
|
• mice show an increase in transepidermal water loss across skin explants
|
|
|
• mice show an increase in transepidermal water loss across skin explants
|
|
|
• epidermal horny layer is tightly packed and thickened
(J:41746)
• electron microscopy of the horny layer shows narrow intercellular spaces embedded with small vesicles, not found in wild-type mice
(J:41746)
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
(J:91794)
• however, structure of corneocytes, including the cornified envelope, is normal
(J:91794)
|
|
|
• lamellar membrane structures in stratum corneum are shortened, distorted, and replaced by incompletely processed, lamellar body-derived materials
• most lamellar bodies in the stratum granulosum layer of the epidermis display abnormalities in size and/or internal contents, indicating an abnormality in lamellar body formation
• however, overall numbers of lamellar bodies appear normal
|
|
|
|
|
|
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive congenital ichthyosis 4B | DOID:0060713 |
OMIM:242500 |
J:91794 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• no mice survive beyond 2 weeks of age
|
|
• increased polyploidy in keratinocytes
|
|
• accelerated telomere shortening in keratinocytes
|
|
• cell cycle arrested at G2 to M transition in keratinocytes
|
|
• failure of keratinocytes to undergo mitosis
|
|
• epithelial abnormalities in the oral mucosa
|
|
• fail to gain weight after birth
|
|
• epithelial abnormalities in the oral mucosa
|
|
• areas of focal skin dysplasia in the skin and other stratified epithelia
|
|
• epithelial abnormalities in the oral mucosa
|
|
• severe skin hyper-pigmentation at birth
• dependent on Trp53 expression
|
|
• dependent on expression of Trp53
|
|
• hair follicle down-growth is defective
• reduced proliferation in hair primordia
|
|
• lack of mature hair follicles
|
|
• areas of focal skin dysplasia in the skin and other stratified epithelia
|
|
• severe skin scaling develops after birth
|
|
• severe skin hyper-pigmentation at birth
• dependent on Trp53 expression
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die between P1 and P4
|
|
• widespread lack of hair
|
|
• severe decrease in hypoplastic epidermal regions
|
|
• the epidermis shows scattered hyperplastic and hypoplastic regions
• cells in hyperplastic regions continue to express Cdk7 whiles those in hypoplastic regions do not
|
|
• hyperplastic regions show an expansion of keratin K5 expressing cells into the suprabasal layer and disorganization of these layers
|
|
• in hypoplastic regions
|
|
• hyperplastic regions show an expansion of keratin K5 expressing cells into the suprabasal layer and disorganization of these layers
|
|
• hypoplastic epidermal regions show delayed development and an abnormal differentiation pattern
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• telomeres in the epidermis is shorter than in wild-type cells with increased DNA damage
|
|
• in female mice on a standard diet
|
|
• in adulthood
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal lifespan unlike Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
| N |
• mice exhibit a rescue of the systemic lupus erythematosus associated phenotypes observed in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice including normal lymph node architecture, plasma cell count, and antinuclear autoantibodies
|
|
• mild
|
| N |
• mice exhibit a rescue of the lupus associated kidney phenotypes observed in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
| N |
• ce exhibit normal urine albumin levels unlike in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
| N |
• mice exhibit a rescue of the lupus associated skin phenotypes observed in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
|
• mild
|
|
• mild
|
|
• milder than in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice die before 20 months
|
|
• mice exhibit an increase in plasma cells in the blood, lymph node and spleen unlike wild-type mice
|
|
• from epidermal cells
|
|
• mice exhibit skin ulcerations, the lupus band in the epidermal-dermal junction, increased IL-6 secretion, mesangial hypercellularity with glomerular basement membrane thickening and luminal obstruction, small and strophic kidney, increased anti-histone antibodies, and decreased survival compared with wild-type mice
|
|
• UV-treated mice exhibit inflammatory perivascular infiltrates with abundant CD3+ T lymphocytes in the liver and lungs unlike similarly treated Junbtm3Wag homozygotes
• UV-treated mice develop swelling of the paws with functional articular impairment, synovial proliferation, and synovial membrane inflammation unlike similarly treated Junbtm3Wag homozygotes
|
|
• unlike wild-type controls, mice develop immunocomplex glomerulonephritis (IC-GN) characterized by mesangial hypercellularity, lobulation of the glomerular tuft with basement membrane thickening, endocapillary hypercellularity, and luminal obstruction by immuno complex deposits
• UV-treated mice develop IC-GN accompanied by tubulo-interstitial nephritis and perivascular CD3+ T-cell-rich infiltrates unlike similarly treated Junbtm3Wag homozygotes
|
|
• UV-treated mice develop IC-GN accompanied by tubulo-interstitial nephritis and perivascular CD3+ T-cell-rich infiltrates unlike similarly treated Junbtm3Wag homozygotes
|
|
• starting at 3 months, mice exhibit dermatitis of ears, snouts, upper thorax region, and paws unlike wild-type mice
|
|
• mice display endocapillary hypercellularity and luminal obstruction by immuno complex deposits
|
|
• mice exhibit mesangial hypercellularity
|
|
• unlike wild-type controls, mice develop immunocomplex glomerulonephritis (IC-GN) characterized by mesangial hypercellularity, lobulation of the glomerular tuft with basement membrane thickening, endocapillary hypercellularity, and luminal obstruction by immuno complex deposits
• UV-treated mice develop IC-GN accompanied by tubulo-interstitial nephritis and perivascular CD3+ T-cell-rich infiltrates unlike similarly treated Junbtm3Wag homozygotes
|
|
• UV-treated mice develop IC-GN accompanied by tubulo-interstitial nephritis and perivascular CD3+ T-cell-rich infiltrates unlike similarly treated Junbtm3Wag homozygotes
|
|
• mice exhibit podocyte foot process effacement in most glomerular capillary loops
|
|
• mice exhibit GBM thickening
|
|
• mice exhibit lobulation of the glomerular tuft
|
|
• mice exhibit an increase in plasma cells in the blood, lymph node and spleen unlike wild-type mice
|
|
• starting at 3 months, mice exhibit dermatitis of ears, snouts, upper thorax region, and paws unlike wild-type mice
|
|
• mice exhibit the lupus band in the epidermal-dermal junction unlike wild-type mice
|
|
• at 3 months
|
|
• mice display endocapillary hypercellularity and luminal obstruction by immuno complex deposits
|
|
• mice exhibit mesangial hypercellularity
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| systemic lupus erythematosus | DOID:9074 |
OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 |
J:155575 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice develop systemic lupus erythematosus associated phenotypes unlike wild-type mice
|
|
• mice exhibit systemic lupus erythematosus associated kidney defects observed in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
|
• mice exhibit a partial rescue of epidermis defects observed in Junbtm3Wag/Junbtm3Wag Tg(KRT5-cre)1Tak mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mutants die within 24 hours after birth due to severe dehydration
(J:85934)
• all die within 24 hours of birth
(J:86533)
• application of a salve to prevent dehydration allows mice to survive longer than 24 hours after birth
(J:86533)
|
| N |
• mutants (epithelial cell-specific Arnt deleted) exhibit normal susceptibility to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) induced thymic involution unlike mutants with T cell-specific Arnt deletion (Arnttm1.1Gonz/Arnttm1.2Gonz Tg(Lck-cre)I57Jxm/0) which are resistant to the effects of TCDD
|
|
• rapid dehydration after birth
(J:86533)
|
|
• seen at P0 and E17, particularly around the ventral neck and perineal areas
|
|
• rapid and steady weight loss after birth
• weight loss is decreased with application of a salve to prevent dehydration
|
|
• tightly packed
|
|
• keratohyalin granules appear sparse
|
|
• abnormal ceramide composition; however cholesterol and fatty acid content is similar to controls
|
|
• seen at P0 and E17, particularly around the ventral neck and perineal areas
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• attachment of isolated keratinocytes to dishes is reduced to about 70% of that of wild-type
|
|
• topical application of wortmannin sensitizes the mutant, but not wild-type, skin to UVB-induced apoptosis
|
|
• increase in the number of apoptotic cells in the epidermis
• keratinocytes cultured in vitro exhibit increased incidence of apoptosis in the absence of growth factors
• however, addition of growth factors such as hepatocyte growth factor attenuates the apoptosis
|
|
• attachment of isolated keratinocytes to dishes is reduced to about 70% of that of wild-type
|
|
• increase in the number of apoptotic cells in the epidermis
• keratinocytes cultured in vitro exhibit increased incidence of apoptosis in the absence of growth factors
• however, addition of growth factors such as hepatocyte growth factor attenuates the apoptosis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• half of mice die within 1 month
|
|
• impaired development of external genitalia
|
|
• at 1 month
|
|
• 4-fold increase in transepidermal water loss at P5
|
|
• at 1 month, inflammatory cells containing melanin with enlarged sebaceous glands are observed in the dermis
|
|
• ballooning basal cells
• intracellular vacuoles and intracytoplasmic droplets in the basal layer
|
|
• abnormal formation of lamellar structures between corneum layers
• abnormal and decreased formation of contents of lamellar granules
|
|
• in newborn mice but not at P5
|
|
• aberrant lamellar granules
|
|
• apparent 1 week after birth
|
|
• impaired
|
|
• impaired development
|
|
• impaired development
|
|
• 4-fold increase in transepidermal water loss at P5
|
|
• apparent 4 days after birth
|
|
• impaired development
|
|
• at 1 month
|
|
• at 1 month, inflammatory cells containing melanin with enlarged sebaceous glands are observed in the dermis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• most mice die by P25
|
|
• mice show growth retardation after P7
|
|
• dendritic epidermal T cells in the epidermis undergo morphological alterations such as spherical change and loss of dendrites
|
|
• skin barrier function becomes disrupted and worsens from 2 weeks of age onward
|
|
• cell infiltrates in the dermis
• neutrophil infiltrates in the upper dermis and sub-to-intracorneal neutrophil accumulation resembling the Munro's micro-abscess
• treatment with an anti-IL-12/23p40 antibody greatly attenuates the skin inflammation and epidermal hyperplasia and decreases the number of gamma-delta-17 cells in skin-draining lymph nodes
|
|
• develop alopecia in the periocular and upper back areas and are covered with thick scales
|
|
• sparse hair after P7
|
|
• lipid inclusions in the stratum corneum
|
|
• seen from 3 weeks of age
• hyperkeratosis is also seen in epithelia of the esophagus and the forestomach
|
|
• vesicles in the stratum granulosum layer
|
|
• abnormal lamellar bodies and malformation of lamellar structures
• lamellar bodies in P14, but not in newborns, have abnormal globular inclusions
• numbers of lamellar bodies within keratinocytes in the granular layer decline from 2 weeks onward
• delay in lamellar body secretion into the extracellular space after tape stripping
|
|
• loss of the granular layer
|
|
• acanthosis seen in mice older than 2 weeks of age
|
|
• generalized erythema is seen from 3 weeks of age
|
|
• scales over the body are seen after P7
|
|
• from 3 weeks of age, lesions deteriorate with alopecia, hyperkeratosis, and generalized erythema
• skin lesions show an accumulation of IL-23+CD11c+ cells in the dermis
|
|
• mice at P3 show an elevation of transepidermal water loss at 2.5 hours after tape stripping, indicating a delay in barrier restoration
• delay in lamellar body secretion into the extracellular space after tape stripping
|
|
• numbers of migrating dendritic cells including langerin+ cells are increased in skin-draining lymph nodes at P11, however the increase in IL-17 gamma-delta T cells is not seen at this time yet
|
|
• increase in IL-17 producing CD4+ cells (Th17) in skin-draining lymph nodes
|
|
• increase in CD4-CD8- gamma-delta T cells and IL-22-producing gamma-delta T cells in skin-draining lymph nodes
• expansion of IL-17 producing gamma-delta T cells in skin lesions
• treatment with an anti-IL-12/23p40 antibody decreases the number of gamma-delta-17 cells in skin-draining lymph nodes
|
|
• Langerhans cells appear to be spherical with fewer dendrites compared to wild-type mice
• Langerhans cells have elongated dendrites upward beneath the stratum corneum, indicating that Langerhans cells are activated unlike wild-type Langerhans cells, which reside in the basal layer of the epidermis with horizontally spreading dendrites
|
|
• dendritic epidermal T cells in the epidermis undergo morphological alterations such as spherical change and loss of dendrites
|
|
• skin-draining lymph nodes exhibit increased numbers of CD40highCD11cint cells and of langerin+ cells, indicating enhanced Langerhans cell migration from the epidermis to lymph nodes
|
|
• cell infiltrates in the dermis
• neutrophil infiltrates in the upper dermis and sub-to-intracorneal neutrophil accumulation resembling the Munro's micro-abscess
• treatment with an anti-IL-12/23p40 antibody greatly attenuates the skin inflammation and epidermal hyperplasia and decreases the number of gamma-delta-17 cells in skin-draining lymph nodes
|
|
• numbers of migrating dendritic cells including langerin+ cells are increased in skin-draining lymph nodes at P11, however the increase in IL-17 gamma-delta T cells is not seen at this time yet
|
|
• increase in IL-17 producing CD4+ cells (Th17) in skin-draining lymph nodes
|
|
• increase in CD4-CD8- gamma-delta T cells and IL-22-producing gamma-delta T cells in skin-draining lymph nodes
• expansion of IL-17 producing gamma-delta T cells in skin lesions
• treatment with an anti-IL-12/23p40 antibody decreases the number of gamma-delta-17 cells in skin-draining lymph nodes
|
|
• Langerhans cells appear to be spherical with fewer dendrites compared to wild-type mice
• Langerhans cells have elongated dendrites upward beneath the stratum corneum, indicating that Langerhans cells are activated unlike wild-type Langerhans cells, which reside in the basal layer of the epidermis with horizontally spreading dendrites
|
|
• dendritic epidermal T cells in the epidermis undergo morphological alterations such as spherical change and loss of dendrites
|
|
• water-holding capacity is reduced to 35% of the level in wild-type mice indicating constitutional impairment of hydration
|
|
• skin barrier function becomes disrupted and worsens from 2 weeks of age onward
|
|
• reduction of ceramide (Cer, d18:1/C18:0) in the epidermis of footpad skin
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| psoriasis | DOID:8893 |
OMIM:PS177900 |
J:202388 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• inflammation present
|
|
• increased apoptosis
|
|
• inflammation present
|
|
• increased apoptosis
|
|
• increased apoptosis
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
N |
• mice exhibit normal masculinization
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• quicker progression from papillomas to malignant skin tumors in TPA-treated mice
• however, the number of TPA-induced papillomas is normal
|
|
• quicker progression from papillomas to malignant skin tumors in TPA-treated mice
• however, the number of TPA-induced papillomas is normal
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• low squamous instead of the normal cuboidal to columnar forms during lactation
|
|
• decreased number of ducts
|
|
• decreased secondary and tertiary branches in virgin mice
|
|
• increased quiescent alveolus epithelial cells during lactation compared with control mice
• secretory defect during lactation
|
|
• wavy and short coat
|
|
• at 11 days
• less pronounced after 6 to 8 weeks
|
|
• observed starting at day 9 and more evident at day 14
• misaligned and variable angled follicles
|
|
• spanning the entire thickness of the dermal layer
|
|
• shortly after birth and more prominent in adulthood
|
| N |
• mammary cells exhibit normal genomic stability
|
|
• some pups of homozygous dams die after birth without milk spots and surviving pups are runted due to impaired lactation
|
|
• in pups of homozygous dams
|
|
• low squamous instead of the normal cuboidal to columnar forms during lactation
|
|
• decreased number of ducts
|
|
• decreased secondary and tertiary branches in virgin mice
|
|
• increased quiescent alveolus epithelial cells during lactation compared with control mice
• secretory defect during lactation
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 11/12/2024 MGI 6.24 |
|
|
|
||
