Phenotypes Associated with This Genotype

Genotype
MGI:5563659

• Allelic Composition: Sptlc2^tm1Yhir/Sptlc2^tm1Yhir; Tg(KRT5-cre)1Tak/0
• Genetic Background: involves: C3H * C57BL/6

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

mortality/aging

premature death ( J:202388 )

• most mice die by P25

growth/size/body

postnatal growth retardation ( J:202388 )

• mice show growth retardation after P7

integument

abnormal dendritic epidermal T cell morphology ( J:202388 )

• dendritic epidermal T cells in the epidermis undergo morphological alterations such as spherical change and loss of dendrites

impaired skin barrier function ( J:202388 )

• skin barrier function becomes disrupted and worsens from 2 weeks of age onward

skin inflammation ( J:202388 )

• 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

alopecia ( J:202388 )

• develop alopecia in the periocular and upper back areas and are covered with thick scales

sparse hair ( J:202388 )

• sparse hair after P7

abnormal epidermis stratum corneum morphology ( J:202388 )

• lipid inclusions in the stratum corneum

hyperkeratosis ( J:202388 )

• seen from 3 weeks of age

• hyperkeratosis is also seen in epithelia of the esophagus and the forestomach

abnormal epidermis stratum granulosum morphology ( J:202388 )

• vesicles in the stratum granulosum layer

abnormal epidermal lamellar body morphology ( J:202388 )

• 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

absent epidermis stratum granulosum ( J:202388 )

• loss of the granular layer

acanthosis ( J:202388 )

• acanthosis seen in mice older than 2 weeks of age

epidermal hyperplasia ( J:202388 )

dry skin ( J:202388 )

• newborns show generalized xerosis

reddish skin ( J:202388 )

• generalized erythema is seen from 3 weeks of age

scaly skin ( J:202388 )

• scales over the body are seen after P7

skin lesions ( J:202388 )

• 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

psoriasis ( J:202388 )

delayed skin barrier formation ( J:202388 )

• 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

immune system

increased dendritic cell number ( J:202388 )

• 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

increased T-helper 17 cell number ( J:202388 )

• increase in IL-17 producing CD4+ cells (Th17) in skin-draining lymph nodes

increased gamma-delta T cell number ( J:202388 )

• 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

abnormal Langerhans cell morphology ( J:202388 )

• 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

abnormal dendritic epidermal T cell morphology ( J:202388 )

• dendritic epidermal T cells in the epidermis undergo morphological alterations such as spherical change and loss of dendrites

abnormal Langerhans cell physiology ( J:202388 )

• skin-draining lymph nodes exhibit increased numbers of CD40^highCD11c^int cells and of langerin+ cells, indicating enhanced Langerhans cell migration from the epidermis to lymph nodes

skin inflammation ( J:202388 )

• 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

hematopoietic system

increased dendritic cell number ( J:202388 )

• 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

increased T-helper 17 cell number ( J:202388 )

• increase in IL-17 producing CD4+ cells (Th17) in skin-draining lymph nodes

increased gamma-delta T cell number ( J:202388 )

• 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

abnormal Langerhans cell morphology ( J:202388 )

• 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

abnormal dendritic epidermal T cell morphology ( J:202388 )

• dendritic epidermal T cells in the epidermis undergo morphological alterations such as spherical change and loss of dendrites

homeostasis/metabolism

dehydration ( J:202388 )

• water-holding capacity is reduced to 35% of the level in wild-type mice indicating constitutional impairment of hydration

impaired skin barrier function ( J:202388 )

• skin barrier function becomes disrupted and worsens from 2 weeks of age onward

abnormal ceramide level ( J:202388 )

• 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