Phenotypes Associated with This Genotype

Genotype
MGI:5635532

• Allelic Composition: Tg(KRT14-rtTA)F42Efu/0; Tg(tetO-GJB2*G45E,-EGFP)#Tww/0
• Genetic Background: involves: FVB/N * SKH1

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

cellular

increased hair follicle apoptosis ( J:220589 )

• increase in apoptosis is seen in head skin, particularly in the thickened hair follicle epithelium after 3 weeks of doxycycline treatment

mortality/aging

postnatal lethality, incomplete penetrance ( J:220589 )

• mortality rate is greater than 50% by weaning when transgene expression is induced in utero with doxycycline and surviving mice are in poor health

• mice raised without doxycycline exhibit normal postnatal development and lifespan

growth/size/body

decreased body size ( J:220589 )

• neonates that had been induced with doxycycline in utero are reduced in size

endocrine/exocrine glands

sebaceous gland atrophy ( J:220589 )

• sebaceous gland atrophy after 10 weeks of doxycycline treatment

integument

increased hair follicle apoptosis ( J:220589 )

• increase in apoptosis is seen in head skin, particularly in the thickened hair follicle epithelium after 3 weeks of doxycycline treatment

sebaceous gland atrophy ( J:220589 )

• sebaceous gland atrophy after 10 weeks of doxycycline treatment

abnormal hair follicle morphology ( J:220589 )

• extensive hair follicle atrophy after 10 weeks of doxycycline treatment

abnormal skin morphology ( J:220589 )

• adult mice develop skin abnormalities within 7-14 days of doxycycline induction; skin pathology worsens when mice are maintained on doxycycline for longer periods

• mice induced with doxycycline for 4 weeks show greater undulation of the epidermis into the dermis (papillomatosis)

abnormal dermal layer morphology ( J:220589 )

• subepidermal dermis shows elongated and dilated capillaries and a mild lymphocytic infiltration in mice induced with doxycycline for 4 weeks

• increase in apoptosis is seen in head skin, particularly in the dermis after 3 weeks of doxycycline treatment

abnormal epidermal layer morphology ( J:220589 )

• increase in number of mitotic epidermal cells in mice induced with doxycycline for 4 weeks

abnormal epidermis stratum corneum morphology ( J:220589 )

• mice induced with doxycycline for 4 weeks show a thickened and compact but orthokeratotic stratum corneum

hyperkeratosis ( J:220589 )

• the hair follicle epithelium is hyperkeratotic in mice induced with doxycycline for 4 weeks show, leading to horny cysts and follicular plugging

• epidermis shows a massive hyperkeratosis with frequent keratotic plugging after 10 weeks of doxycycline treatment

orthokeratosis ( J:220589 )

• seen in mice induced with doxycycline for 4 weeks

acanthosis ( J:220589 )

• mice induced with doxycycline for 4 weeks show acanthosis

• the hair follicle epithelium is acanthotic in mice induced with doxycycline for 4 weeks

abnormal keratinocyte morphology ( J:220589 )

• keratinocytes are increased in size in mice treated with doxycycline, showing a 28% increase in cell perimeter

thick epidermis ( J:220589 )

• after 10 weeks of doxycycline treatment, mice exhibit extensively thickened epidermis

reddish skin ( J:220589 )

• neonates that had been induced with doxycycline in utero are reddish in appearance

scaly skin ( J:220589 )

• adult mice treated with doxycycline exhibit erythrokeratoderma and epidermal scaling

wrinkled skin ( J:220589 )

• after 10 weeks of doxycycline treatment, mice exhibit depended skin folds with a rough, coarse-grained appearance

abnormal keratinocyte physiology ( J:220589 )

• keratinocytes isolated from mice treated with doxycycline show increased whole-cell membrane currents at both hyperpolarizing and depolarizing membrane potentials

• membrane capacitance of keratinocytes from mice treated with doxycycline is increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant keratitis-ichthyosis-deafness syndrome		DOID:0060871	OMIM:148210	J:220589