Phenotypes Associated with This Genotype

Genotype
MGI:4456370

• Allelic Composition: Tg(KRT5-IKBKB)2Armz/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

skeleton

abnormal tooth morphology ( J:160072 )

• 50% of mice have alterations in teeth

vision/eye

early eyelid opening ( J:160072 )

• majority of newborn males have open eyes

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:160072 )

N • 50% of mice have alterations in exocrine glands

craniofacial

abnormal tooth morphology ( J:160072 )

• 50% of mice have alterations in teeth

pigmentation

pigment incontinence ( J:160072 )

hyperpigmentation ( J:160072 )

• males more pronouncedly than females

immune system

abnormal melanophage morphology ( J:160072 )

• melanophages that result in vacuolar degeneration of keratinocytes in the basal layer

abnormal immune serum protein physiology ( J:160072 )

abnormal cytokine level ( J:160072 )

• increase in males in the concentrations of CSF2 and CCL2

increased circulating interferon-gamma level ( J:160072 )

• in males

increased circulating interleukin-1 alpha level ( J:160072 )

• in males

increased circulating interleukin-10 level ( J:160072 )

• in males

increased circulating interleukin-2 level ( J:160072 )

• in males

increased circulating interleukin-4 level ( J:160072 )

• in males

increased circulating interleukin-5 level ( J:160072 )

• in males

increased circulating interleukin-6 level ( J:160072 )

• in males

increased circulating tumor necrosis factor level ( J:160072 )

• in males

increased interleukin-1 alpha secretion ( J:160072 )

• in the supernatants after 48 hours of culture compared to wild-type keratinocytes

increased interleukin-6 secretion ( J:160072 )

• in the supernatants after 48 hours of culture compared to wild-type keratinocytes

increased tumor necrosis factor secretion ( J:160072 )

• in the supernatants after 48 hours of culture compared to wild-type keratinocytes

dermatitis ( J:160072 )

• migration of leucocytes into the epidermis visible on foot sole, ears and tail

hematopoietic system

abnormal melanophage morphology ( J:160072 )

• melanophages that result in vacuolar degeneration of keratinocytes in the basal layer

homeostasis/metabolism

abnormal cytokine level ( J:160072 )

• increase in males in the concentrations of CSF2 and CCL2

increased circulating interferon-gamma level ( J:160072 )

• in males

increased circulating interleukin-1 alpha level ( J:160072 )

• in males

increased circulating interleukin-10 level ( J:160072 )

• in males

increased circulating interleukin-2 level ( J:160072 )

• in males

increased circulating interleukin-4 level ( J:160072 )

• in males

increased circulating interleukin-5 level ( J:160072 )

• in males

increased circulating interleukin-6 level ( J:160072 )

• in males

increased circulating tumor necrosis factor level ( J:160072 )

• in males

integument

dermatitis ( J:160072 )

• migration of leucocytes into the epidermis visible on foot sole, ears and tail

abnormal coat appearance ( J:160072 )

alopecia ( J:160072 )

• males more pronouncedly than females

hairless ( J:160072 )

• males more pronouncedly than females

progressive hair loss ( J:160072 )

• males more pronouncedly than females

abnormal hair follicle morphology ( J:160072 )

• transformation of hair follicles into structures lacking their usual layered arrangement and unable to form hair

abnormal skin morphology ( J:160072 )

epidermal necrosis ( J:160072 )

abnormal dermis papillary layer morphology ( J:160072 )

• infiltration of mononuclear, inflammatory cells at the papillary dermis

abnormal keratinocyte morphology ( J:160072 )

• severe vacuolar alteration of the cytoplasm and nuclei

epidermal hyperplasia ( J:160072 )

• extensive areas of severe hyperplasia in older mice

abnormal skin appearance ( J:160072 )

reddish skin ( J:160072 )

• males more pronouncedly than females

spontaneous skin ulceration ( J:160072 )

• males more pronouncedly than females

pigment incontinence ( J:160072 )

abnormal skin condition ( J:160072 )

• all develop a skin condition that leads to lichenification (characterized by thickened, hyperpigmented, and hairless skin) the condition is more pronounced in males than in females

• alterations in the skin are detected in the first month of life

• skin graft studies indicate that the phenotype is cell autonomous

thick skin ( J:160072 )

• males more pronouncedly than females

abnormal keratinocyte physiology ( J:160072 )

• increase in the production and secretion of IL1A, IL6, TNF, CSF2 and CCL2 in keratinocytes cultured for 48 hours

increased keratinocyte proliferation ( J:160072 )

• increased KRT6, a marker of the inner root sheath of the hair follicles and hyperproliferative epidermal cells

increased pruritus ( J:160072 )

• signs of pruritus before the first month with males more pronouncedly than females

cellular

epidermal necrosis ( J:160072 )

increased keratinocyte proliferation ( J:160072 )

• increased KRT6, a marker of the inner root sheath of the hair follicles and hyperproliferative epidermal cells

growth/size/body

abnormal tooth morphology ( J:160072 )

• 50% of mice have alterations in teeth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dermatitis		DOID:2723		J:160072