Phenotypes associated with this allele

• Allele Symbol: Tg(KRT14-cre)1Ipc
• Allele Name: transgene insertion 1, I Pierre Chambon
• Allele ID: MGI:2177413
• Summary: 29 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tslp^tm1.1Pcn/Tslp^tm1.1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129 * C57BL/6 * SJL	MGI:3837766
cn2	Taf10^tm1Lzt/Taf10^tm1Lzt Tg(KRT14-cre)1Ipc/0	involves: 129 * C57BL/6 * SJL	MGI:3606199
cn3	Acvr2a^tm1Hsch/Acvr2a^+ Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl Tg(KRT14-cre)1Ipc/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * SJL	MGI:6258674
cn4	Acvr2a^tm1Hsch/Acvr2a^tm1Hsch Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl Tg(KRT14-cre)1Ipc/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * SJL	MGI:6258667
cn5	Rxra^tm4Ipc/Rxra^tm4Ipc Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629406
cn6	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629408
cn7	Cdsn^tm1.1Ics/Cdsn^tm1.1Ics Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:4365389
cn8	Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629395
cn9	Rxra^tm2Ipc/Rxra^tm4Ipc Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:4358397
cn10	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(KRT14-cre)1Ipc/?	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3606859
cn11	Esr2^tm1.1Pcn/Esr2^tm1.1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5298873
cn12	Bmpr2^tm1.1Enl/Bmpr2^tm1Kmi Tg(KRT14-cre)1Ipc/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:6258665
cn13	Vhl^tm1Jae/Vhl^tm1Jae Tg(KRT14-cre)1Ipc/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3832401
cn14	Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl Tg(KRT14-cre)1Ipc/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:6258662
cn15	Gt(ROSA)26Sor^tm4(HIF2A*)Kael/Gt(ROSA)26Sor^+ Tg(KRT14-cre)1Ipc/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6 * SJL	MGI:3832400
cn16	Gt(ROSA)26Sor^tm3(HIF1A*)Kael/Gt(ROSA)26Sor^+ Tg(KRT14-cre)1Ipc/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6 * SJL	MGI:3832399
cn17	Stk11^tm1.1Rdp/Stk11^tm1.1Rdp Tg(KRT14-cre)1Ipc/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL	MGI:3814722
cn18	Hdac1^tm1.1Eno/Hdac1^tm1.1Eno Tg(KRT14-cre)1Ipc/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:5605728
cn19	Hdac1^tm1.1Eno/Hdac1^tm1.1Eno Hdac2^tm1.1Eno/Hdac2^+ Tg(KRT14-cre)1Ipc/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:5605729
cn20	Prss8^tm1.1Hum/Prss8^tm1.2Hum Tg(KRT14-cre)1Ipc/0	involves: 129/Sv * C57BL/6 * FVB/N * SJL	MGI:3722899
cn21	Hsd3b6^tm1.1Hokh/Hsd3b6^tm1.1Hokh Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * C57BL/6JJcl * SJL	MGI:7621287
cn22	Vdr^tm2Ska/Vdr^tm2Ska Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL	MGI:3663452
cn23	Nin^tm1c(EUCOMM)Hmgu/Nin^tm1c(EUCOMM)Hmgu Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * C57BL/6N * SJL	MGI:6358685
cn24	Rarg^tm3Ipc/Rarg^tm3Ipc Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * SJL	MGI:3629393
cn25	Bcl11b^tm1.1Leid/Bcl11b^tm1.1Leid Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * SJL	MGI:3839579
cn26	Pparg^tm1.2Mtz/Pparg^tm1.2Mtz Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * SJL	MGI:3629415
cn27	Ppard^tm1Mtz/Ppard^tm1Mtz Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * SJL	MGI:3629414
cn28	Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0	involves: C57BL/6 * SJL	MGI:3629396
cn29	Taf4^tm1Idvd/Taf4^tm1Idvd Tg(KRT14-cre)1Ipc/0	Not Specified	MGI:3758082

Genotype
MGI:3837766

cn1

• Allelic Composition: Tslp^tm1.1Pcn/Tslp^tm1.1Pcn; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

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

homeostasis/metabolism

decreased physiological sensitivity to xenobiotic ( J:146511 )

• when treated with MC903 mice develop dry and scaly ears unlike similarly treated mice that develop red or inflamed lesions

• MC903-treated ears exhibit some the epidermal hyperplasia but not the heavy dermal cell infiltrate observed as in similarly treated wild-type mice

• at day 16 following application of MC903, mice exhibit a lesser increase in IgE levels compared to in similarly treated wild-type mice

• MC903-treated mice fail to exhibit an increase in eosinophil and lymphocyte counts compared to in similarly treated wild-type mice

immune system

decreased eosinophil cell number ( J:146511 )

• MC903-treated mice fail to exhibit an increase in eosinophil and lymphocyte counts compared to in similarly treated wild-type mice

decreased lymphocyte cell number ( J:146511 )

• MC903-treated mice fail to exhibit an increase in eosinophil and lymphocyte counts compared to in similarly treated wild-type mice

decreased IgE level ( J:146511 )

• compared to in wild-type mice at day 16 following application of MC903

hematopoietic system

decreased eosinophil cell number ( J:146511 )

• MC903-treated mice fail to exhibit an increase in eosinophil and lymphocyte counts compared to in similarly treated wild-type mice

decreased lymphocyte cell number ( J:146511 )

• MC903-treated mice fail to exhibit an increase in eosinophil and lymphocyte counts compared to in similarly treated wild-type mice

decreased IgE level ( J:146511 )

• compared to in wild-type mice at day 16 following application of MC903

Genotype
MGI:3606199

cn2

• Allelic Composition: Taf10^tm1Lzt/Taf10^tm1Lzt; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129 * C57BL/6 * SJL

mortality/aging

perinatal lethality, complete penetrance ( J:101668 )

• neonates die within 3-4 hours after being removed from their mothers in contrast to controls that survive for more than 24 hours

homeostasis/metabolism

dehydration ( J:101668 )

• fetuses have a 15-fold higher transepidermal water loss than controls

• fetuses lose 7% body weight within 4 hours after cesarean delivery at E18.5 while controls maintain their body weight

impaired skin barrier function ( J:101668 )

• extensive penetration of X-Gal dye in newborns compared to controls

• fetuses have a 15-fold higher transepidermal water loss than controls

integument

impaired skin barrier function ( J:101668 )

• extensive penetration of X-Gal dye in newborns compared to controls

• fetuses have a 15-fold higher transepidermal water loss than controls

abnormal epidermal layer morphology ( J:101668 )

• no multilamellar structures are seen between granular cells and corneocytes, only vesicles are located in the intracellular spaces

abnormal keratinocyte differentiation ( J:101668 )

• terminal differentiation of keratinocytes is impaired

abnormal epidermis stratum corneum morphology ( J:101668 )

• cornified cell layer is always reduced or absent in about 70% of the skin surface

• in the remaining cornified layer, lipid lamellae are either not formed or highly variable in thickness and contain 10-fold less corneodesmosomes than controls

absent epidermis stratum corneum ( J:101668 )

• cornified cell layer is always reduced or absent in about 70% of the skin surface

abnormal epidermal lamellar body morphology ( J:101668 )

• approximately 80% of lamellar granules do not contain lipid disks

dry skin ( J:101668 )

• skin becomes dry when neonates are separated from moms

shiny skin ( J:101668 )

abnormal skin condition ( J:101668 )

• skin of neonates is more sticky than controls

cellular

abnormal keratinocyte differentiation ( J:101668 )

• terminal differentiation of keratinocytes is impaired

Genotype
MGI:6258674

cn3

• Allelic Composition: Acvr2a^tm1Hsch/Acvr2a⁺; Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * SJL

integument

abnormal coat/ hair morphology ( J:189569 )

• at P20, awl, auchene, and zigzag hairs are markedly shorter than normal (consistent with premature entry into catagen), while the normally straightest hair types - guard and awl - are curved

• at P20, awl and auchene hairs lack multiple columns of medullary cells and have instead a single column; as such, awl/auchene hairs possess zigzag-like medullas and widths equivalent to normal zigzag fibers, making them markedly thinner than normal awl/auchene hairs

abnormal auchene hair morphology ( J:189569 )

• at P20, auchene hairs are markedly shorter and thinner than normal

abnormal awl hair morphology ( J:189569 )

• at P20, awl hairs are markedly shorter and thinner than normal

abnormal hair growth ( J:189569 )

• coats undergo repeated cycles of hair loss and regrowth throughout life

alopecia ( J:189569 )

• mice exhibit cyclic alopecia

• starting at ~P14, mice undergo total, progressive loss of coat hair in a face-to-tail sequence such that mice are completely bald by ~3 weeks of age; shortly after total coat hair loss, a new hair coat forms in full once more, and this coat is quickly lost again after reaching its maximum length

premature hair regrowth ( J:189569 )

• hair follicles enter anagen precociously, leading to a greater number of hair cycles

striated fur ( J:189569 )

• adult mice display hair growth and loss simultaneously, resulting in the appearance of stripes of coat hair and bald skin

abnormal hair shaft morphology ( J:189569 )

• hair shafts fail to develop hair clubs and exhibit ends of variable length that are tapered, thin, and wavy

• comb-collected hair fibers show the same tapered ends as those gathered with a forceps

increased curvature of awl hairs ( J:189569 )

• at P20

abnormal hair shaft melanin granule distribution ( J:189569 )

• amorphous clumping of the medullary pigment is observed in all hair types

increased curvature of guard hairs ( J:189569 )

• at P20

absent hair club ( J:189569 )

• failure to develop hair clubs appears to be the primary cause of total hair loss

abnormal hair medulla ( J:189569 )

• the hair medulla shows structural disorganization and differentiation defects

• at P11, the hair medulla shows many ectopic BrdU-labeled (proliferating) cells which are normally absent from the differentiating hair shaft

abnormal hair medullary septa cells ( J:189569 )

• medullary cells appear disorganized and fail to form well-defined ladders of pigment bands in all hair types; amorphous clumping of medullary pigment is observed

• medullary trichohyalin is greatly reduced, suggesting that medullary cells fail to differentiate properly

• awl and auchene hair follicles fail to produce multiple columns of medullary cells, generating a single column instead; as such, awl/auchene hairs possess zigzag-like medullas

thin hair shaft ( J:189569 )

• following birth, a dense coat is formed but a subset of hair shafts are thinner than those in control mice

abnormal zigzag hair morphology ( J:189569 )

• at P20, zigzag hairs are markedly shorter than normal

long nails ( J:189569 )

• mice exhibit excessive nail growth after 2 months of age

abnormal hair follicle outer root sheath morphology ( J:189569 )

• during catagen, mice show an increase in proliferating cells in the permanent" or superficial segment of the ORS that survives catagen

abnormal hair cycle ( J:189569 )

• mice exhibit a shift in the anagen/catagen transition, leading to the premature end of anagen and early induction of catagen

early exit from anagen phase ( J:189569 )

• mice exhibit shortened anagens; similar to the first period of hair production, the second period is also shorter, averaging 10.7 days versus 12.4 days in control mice

abnormal hair cycle catagen phase ( J:189569 )

• mice exhibit premature yet prolonged catagens

• catagen starts early with narrowing, amelanotic hair bulbs observed as early as P15, a time when controls continue to grow hair

• by P16-17, all hair follicles have entered catagen but progression through this phase of the hair cycle is slow

• however, no differences in apoptosis are observed during catagen

early exit from telogen phase ( J:189569 )

• coat follicles always exhibit shortened telogens, as new hair is produced soon after the preceding hair fibers are lost

• at P50, the coat follicles have left the second telogen and uniformly re-entered anagen, whereas those of controls mice are still in the second telogen

abnormal hair follicle regression ( J:189569 )

• hair follicles are still regressing at P20, as shown by the presence of extended epithelial strands (involuting remnants of the outer root sheath and hair bulb)

• slowly regressing epithelial strands often appear abnormally curled; concomitant with impaired follicular involution, hair shafts disappear from the skin

increased hair follicle cell proliferation ( J:189569 )

• at P18 (during catagen), BrdU-labeled cells are increased in the superficial segments of the hair follicles

thick epidermis ( J:189569 )

• at the onset of anagen, mice exhibit a thicker epidermis consistent with an increased number of BrdU-labeled cells in the epidermis

pigmentation

abnormal hair shaft melanin granule distribution ( J:189569 )

• amorphous clumping of the medullary pigment is observed in all hair types

Genotype
MGI:6258667

cn4

• Allelic Composition: Acvr2a^tm1Hsch/Acvr2a^tm1Hsch; Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * SJL

mortality/aging

perinatal lethality, complete penetrance ( J:189569 )

• mice die around the time of birth

• however, no skin a barrier defect is observed

vision/eye

eyelids open at birth ( J:189569 )

integument

abnormal hair growth ( J:189569 )

• mice exhibit defects in hair development and retention; newborn skin fails to generate coat hair fibers or vibrissae

absent hair follicle bulb ( J:189569 )

• coat follicles typically lack hair bulbs

abnormal hair follicle development ( J:189569 )

• newborns show impaired hair follicle morphogenesis

• however, the epidermis is intact

underdeveloped hair follicles ( J:189569 )

• coat and vibrissa hair follicles appear to be slowed or arrested in their development

abnormal vibrissa follicle morphology ( J:189569 )

• vibrissa follicles possess hair bulbs but are short, showing less downgrowth into the dermis, and generally lack terminally differentiating structures (e.g. the inner root sheath and hair shaft) and terminal differentiation markers (e.g. trichohyalin)

absent vibrissae ( J:189569 )

• vibrissa follicles generally lack the hair shaft

Genotype
MGI:3629406

cn5

• Allelic Composition: Rxra^tm4Ipc/Rxra^tm4Ipc; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

integument

abnormal epidermis stratum corneum morphology ( J:109090 )

• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

shiny skin ( J:109090 )

Genotype
MGI:3629408

cn6

• Allelic Composition: Rxra^tm1Ipc/Rxra^tm4Ipc; Rxrb^tm1Mma/Rxrb^tm1Pcn; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

integument

abnormal skin morphology ( J:109090 )

• phenotype of newborn mutant epidermis is identical to that observed in Rarg^tm1Ipc newborns

abnormal epidermis stratum corneum morphology ( J:109090 )

• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

abnormal skin condition ( J:109090 )

• skin of newborns appears dull

Genotype
MGI:4365389

cn7

• Allelic Composition: Cdsn^tm1.1Ics/Cdsn^tm1.1Ics; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:153292 )

• die within 1 to 2 h of birth

homeostasis/metabolism

impaired skin barrier function ( J:153292 )

• impaired barrier function coincides with areas of skin detachment

• trans epidermal water loss increases dramatically after the onset of skin detachment

• dorsal skin grafted onto nude mice displays increased trans epidermal water loss

neoplasm

increased skin papilloma incidence ( J:153292 )

• papillomatosis is seen in dorsal skin grafted onto nude mice

integument

impaired skin barrier function ( J:153292 )

• impaired barrier function coincides with areas of skin detachment

• trans epidermal water loss increases dramatically after the onset of skin detachment

• dorsal skin grafted onto nude mice displays increased trans epidermal water loss

hairless ( J:153292 )

• dorsal skin grafted onto nude mice initially has sparse hairs that progressively disappear becoming totally absent by 9 weeks after grafting

mixed cellular infiltration to dermis ( J:153292 )

• seen in dorsal skin grafted onto nude mice

abnormal epidermal layer morphology ( J:153292 )

• blisters are seen between the stratum granulosum and stratum corneum

• in isolated sections of skin and in areas adjacent to zones of detachment at the transition from the stratum granulosum to the stratum corneum numerous split transitional desmosomes are seen

absent epidermis stratum corneum ( J:153292 )

• in zones of skin rupture

• however, the stratum corneum is present in areas with intact skin

hyperkeratosis ( J:153292 )

• seen in dorsal skin grafted onto nude mice

parakeratosis ( J:153292 )

• seen in dorsal skin grafted onto nude mice

epidermal hyperplasia ( J:153292 )

• prominent hyperplasia with papillomatosis is seen in dorsal skin grafted onto nude mice

spontaneous skin ulceration ( J:153292 )

• grafting of dorsal skin onto nude mice results in chronic ulceration of the grafted skin

abnormal skin condition ( J:153292 )

• severe skin detachment is seen in neonates

• when born by C-section mice appear normal until groomed by surrogate mothers after which skin detachment is rapidly apparent

• skin rupture starts in the ventral area, paws and snout and extends to the flanks

• dorsal skin grafted onto nude mice becomes hard and forms a scab that by 9 weeks post grafting completely replaces the epidermis

dermal cyst ( J:153292 )

• seen in dorsal skin grafted onto nude mice, characteristically result from degenerative hair follicles

increased skin papilloma incidence ( J:153292 )

• papillomatosis is seen in dorsal skin grafted onto nude mice

decreased skin tensile strength ( J:153292 )

• skin is extremely fragile and tears easily under mechanical stress

• tape stripping removes 3 times more protein compared to controls

growth/size/body

dermal cyst ( J:153292 )

• seen in dorsal skin grafted onto nude mice, characteristically result from degenerative hair follicles

Genotype
MGI:3629395

cn8

• Allelic Composition: Rxra^tm4Ipc/Rxra^tm4Ipc; Rxrb^tm1Pcn/Rxrb^tm1Pcn; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

homeostasis/metabolism

decreased cholesterol level ( J:109090 )

• there is a marked decrease in cholesterol in newborns

integument

abnormal epidermis stratum corneum morphology ( J:109090 )

• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

shiny skin ( J:109090 )

• newborns have skin with glossy appearance

Genotype
MGI:4358397

cn9

• Allelic Composition: Rxra^tm2Ipc/Rxra^tm4Ipc; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

pigmentation

diluted coat color ( J:67149 )

• in mice suffering alopecia, the remaining hair is lighter or grey/white

• hair that grows back after depilation is often white

abnormal melanosome morphology ( J:67149 )

• melanin synthesis is reduced in these mice

abnormal hair follicle melanin granule distribution ( J:67149 )

• melanosomes are found in the outer root sheath keratinocytes

immune system

abnormal Langerhans cell morphology ( J:67149 )

• Langerhans cells are found in higher numbers in the both the suprabasal and basal areas of the skin

• Langerhans cells are also found surrounding cysts

skin inflammation ( J:67149 )

• 16 week old ventral skin has increased cellularity, dilated capillaries and increased numbers of immune cells

• increased numbers of macrophages, CD4 T cells, Langerhans cells, and mast cells are found in the dermis

hematopoietic system

abnormal Langerhans cell morphology ( J:67149 )

• Langerhans cells are found in higher numbers in the both the suprabasal and basal areas of the skin

• Langerhans cells are also found surrounding cysts

integument

increased keratinocyte proliferation ( J:67149 )

• there is increased basal and utricular keratinocyte proliferation in these mice

skin inflammation ( J:67149 )

• 16 week old ventral skin has increased cellularity, dilated capillaries and increased numbers of immune cells

• increased numbers of macrophages, CD4 T cells, Langerhans cells, and mast cells are found in the dermis

diluted coat color ( J:67149 )

• in mice suffering alopecia, the remaining hair is lighter or grey/white

• hair that grows back after depilation is often white

abnormal hair growth ( J:67149 )

alopecia ( J:67149 )

• mice develop a progressive alopecia that starts ventrally on the legs and extends to most ventral regions and parts of the back

• by 16 weeks of age, 80% of ventral hair is loss and flaking occurs

• 30-40% of back hair is lost with additional hair loss occurring around the eyes by 16 weeks of age

• alopecia is less penetrant in about 20% of male mice

delayed hair appearance ( J:67149 )

• initial hair appearance is delayed by 4-5 days

• follicular growth is delayed at 7 days post birth

thin hypodermis ( J:67149 )

• hypodermis is thin at 7 days post birth

abnormal hair follicle morphology ( J:67149 )

abnormal hair follicle melanin granule distribution ( J:67149 )

• melanosomes are found in the outer root sheath keratinocytes

disorganized outer root sheath cells ( J:67149 )

• the outer root sheath contains 4-6 cell layers instead of 1-2 cell layers

• intercellular gaps occur with these cells

• compound melanosomes are often found in these outer root sheets

abnormal piliary canal morphology ( J:67149 )

• a dilatation of the piliary canal, a lack of hair shaft and/or filling of the canal with horny cells are observed

dilated piliary canal ( J:67149 )

distorted hair follicle pattern ( J:67149 )

• hair follicles are disorganized in areas of partial hair loss

hair follicle degeneration ( J:67149 )

• hairless skin from 12 week old show signs of degenerating hair follicles

• presence of closed, round dermal cysts that are embedded in the reticular dermis and not connected to the skin's surface are also observed

abnormal hair cycle anagen phase ( J:67149 )

• mice have impaired anagan initiation after depilation of dorsal hair

• while controls have uniform pigmentation 6 days after depilation, mutants do not show any pigmentation until 10 days post-depilation

• only patchy fur has developed in mutant mice 24 days after depilation while controls look normal

• hair that grows back after depilation is often white

abnormal hair cycle telogen phase ( J:67149 )

• only 40% of mice are in the first telogen phase at 18 days of age compared to almost all age-matched controls being in telogen

• by 20 days of age, almost all mutants are in telogen phase

abnormal skin morphology ( J:67149 )

dermal cyst ( J:67149 )

• many cysts are visible under the skin surface of hairless regions in all 13- to 15-week-old mutant females

• cysts form later and their number and size are reduced in a male mice without alopecia

• cysts are filled with cornified debris and sebum, and their wall consists of a multilayer keratinized epithelium containing a number of Langerhans cells

thick dermal layer ( J:67149 )

• increased dermal cellularity is often observed underneath the hyperplastic epidermis

• capillaries in the dermis are often dilated

hyperkeratosis ( J:67149 )

• stratum corneum of mutant epidermis is thicker in mice at 10 days of age with differences observed in both dorsal and ventral skin

• the number of BrdU-positive keratinocytes was six- to sevenfold higher in basal layer cells than in controls at 10 days of age

• no differences are detected at 18 days of age

thick epidermis suprabasal layer ( J:67149 )

• four viable suprabasal layers are present in wild-type mice compared to 1-2 layers in controls mice

• later in life when hair loss occurs, hyperplasia is seen in areas adjacent to disorganized hair follicles

• no differences are detected at 18 days of age

scaly skin ( J:67149 )

• ten days after birth the skin has a scaly appearance though this disappears by 17 days of age

skin lesions ( J:67149 )

• 10% of mutant mice exhibited minor crusted skin lesions, mainly seen in dorsal hairless areas, on the chin and behind the ears

cellular

increased keratinocyte proliferation ( J:67149 )

• there is increased basal and utricular keratinocyte proliferation in these mice

growth/size/body

dermal cyst ( J:67149 )

• many cysts are visible under the skin surface of hairless regions in all 13- to 15-week-old mutant females

• cysts form later and their number and size are reduced in a male mice without alopecia

• cysts are filled with cornified debris and sebum, and their wall consists of a multilayer keratinized epithelium containing a number of Langerhans cells

Genotype
MGI:3606859

cn10

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(KRT14-cre)1Ipc/?
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:101729 )

• all dead within 4-6 hours of delivery

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:101729 )

• abnormal in the hindlimbs but not forelimbs

• smaller cells and less densely packed

abnormal digit morphology ( J:101729 )

• in less extreme cases, all five digits are present but are abnormal

monodactyly ( J:101729 )

• on the hind limb

• occurs in more extreme cases

abnormal hindlimb morphology ( J:101729 )

• malformed in contrast to forelimbs which are normal

abnormal hindlimb zeugopod morphology ( J:101729 )

• in extreme cases, tibia is absent

• femur is always normal

embryo

abnormal apical ectodermal ridge morphology ( J:101729 )

• abnormal in the hindlimbs but not forelimbs

• smaller cells and less densely packed

homeostasis/metabolism

impaired skin barrier function ( J:101729 )

• epidermis is more permeable

• fetus shows 7 fold greater trans-epidermal water loss

• 5-10% of body weight lost within 4-6 hours of delivery

integument

impaired skin barrier function ( J:101729 )

• epidermis is more permeable

• fetus shows 7 fold greater trans-epidermal water loss

• 5-10% of body weight lost within 4-6 hours of delivery

abnormal skin morphology ( J:101729 )

• dorsal and ventral skin folds broader and more disorganized

abnormal epidermis stratum corneum morphology ( J:101729 )

• 4-6 layers as usual but flatter cells than normal

• vesicles rather than lipid discs between stratum granulosum and corneum

• lamellar membranes in corneum were disorganized and highly variable in thickness

• 5 fold fewer corneodesmosomes

• lower layers of epidermis essentially normal

dry skin ( J:101729 )

• skin becomes dry and waxy within 30-45 minutes of delivery

shiny skin ( J:101729 )

• red and glossy immediately after caesarian delivery

• sticky to touch

Genotype
MGI:5298873

cn11

• Allelic Composition: Esr2^tm1.1Pcn/Esr2^tm1.1Pcn; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

homeostasis/metabolism

delayed wound healing ( J:165719 )

• in ovariectomized mice treated with 17beta-estradiol due to reduced re-epithelialization of the wound

Genotype
MGI:6258665

cn12

• Allelic Composition: Bmpr2^tm1.1Enl/Bmpr2^tm1Kmi; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:189569 )

• mice are healthy, fertile, and overtly normal with no apparent skin defects

Genotype
MGI:3832401

cn13

• Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

growth/size/body

decreased body size ( J:144666 )

• at weaning mice are runted

cardiovascular system

dilated vasculature ( J:144666 )

• the number of dilated dermal blood vessels is increased compared to in wild-type mice

increased vascular permeability ( J:144666 )

• following application of an inflammatory stimuli

integument

increased keratinocyte proliferation ( J:144666 )

• keratinocyte proliferation is increased

alopecia ( J:144666 )

• partial by weaning

epidermal hyperplasia ( J:144666 )

reddish skin ( J:144666 )

• at P5

cellular

increased keratinocyte proliferation ( J:144666 )

• keratinocyte proliferation is increased

Genotype
MGI:6258662

cn14

• Allelic Composition: Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

integument

integument phenotype ( J:189569 )

N • surprisingly, mice are healthy and overtly normal with no apparent skin defects

abnormal hair shaft melanin granule distribution ( J:189569 )

• at times, hair fibers show clumping and disorganization of pigment in regions of the hair medulla

abnormal hair medulla ( J:189569 )

• the hair medulla occasionally appears disorganized

• at times, hair fibers show clumping and disorganization of pigment in regions of the hair medulla

• at P11, the hair medulla contains ectopic BrdU-labeled (proliferating) cells which are normally absent from the differentiating hair shaft

abnormal hair medullary septa cells ( J:189569 )

• medullary trichohyalin is clearly reduced, suggesting that medullary cells fail to differentiate properly

pigmentation

abnormal hair shaft melanin granule distribution ( J:189569 )

• at times, hair fibers show clumping and disorganization of pigment in regions of the hair medulla

Genotype
MGI:3832400

cn15

• Allelic Composition: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}/Gt(ROSA)26Sor⁺; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * SJL

cardiovascular system

dilated vasculature ( J:144666 )

• the number of dilated dermal blood vessels is increased compared to in wild-type mice

increased vascular permeability ( J:144666 )

• following application of an inflammatory stimuli

growth/size/body

decreased body size ( J:144666 )

• at weaning mice are runted

integument

increased keratinocyte proliferation ( J:144666 )

• keratinocyte proliferation is increased

alopecia ( J:144666 )

• partial by weaning

epidermal hyperplasia ( J:144666 )

reddish skin ( J:144666 )

• at P5

cellular

increased keratinocyte proliferation ( J:144666 )

• keratinocyte proliferation is increased

Genotype
MGI:3832399

cn16

• Allelic Composition: Gt(ROSA)26Sor^{tm3(HIF1A*)Kael}/Gt(ROSA)26Sor⁺; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * SJL

integument

integument phenotype ( J:144666 )

N • mice exhibit a normal skin phenotype

Genotype
MGI:3814722

cn17

• Allelic Composition: Stk11^tm1.1Rdp/Stk11^tm1.1Rdp; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL

growth/size/body

decreased body size ( J:131037 )

• animals are smaller than controls

neoplasm

increased squamous cell carcinoma incidence ( J:131037 )

• some mice develop SCC (spontaneously) by 40 weeks of age (>20%)

• all DMBA-treated mutant mice develop invasive skin cancers determined to be SCC with an average latency of 8 weeks, whereas no DMBA-treated controls develop cancer

vision/eye

cornea opacity ( J:131037 )

• due to hyperkeratinization of corneal epithelium

integument

delayed hair appearance ( J:131037 )

• mice show delayed hair growth

sparse hair ( J:131037 )

• adult hair is less dense than in controls

waved hair ( J:131037 )

• adult hair is wavy

abnormal hair shaft morphology ( J:131037 )

• hair shaft diameter is reduced relative to controls

abnormal hair follicle morphology ( J:131037 )

• mild follicular plugging (keratinous debris filling follicular openings) is observed

reddish skin ( J:131037 )

• increased relative to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peutz-Jeghers syndrome		DOID:3852	OMIM:175200	J:131037

Genotype
MGI:5605728

cn18

• Allelic Composition: Hdac1^tm1.1Eno/Hdac1^tm1.1Eno; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

craniofacial

abnormal periorbital region morphology ( J:205733 )

• periorbital area shows normal eyelashes but pelage hair numbers are reduced and hair pattern is disrupted

growth/size/body

abnormal periorbital region morphology ( J:205733 )

• periorbital area shows normal eyelashes but pelage hair numbers are reduced and hair pattern is disrupted

epithelioid cyst ( J:205733 )

• epithelial cyst-like structures on the dorsal skin of adults

decreased body size ( J:205733 )

• at 6 months of age

integument

abnormal sebaceous gland morphology ( J:205733 )

• lipid-retaining cells are increased in sebaceous glands

Meibomian gland hyperplasia ( J:205733 )

• Meibomian glands are hyperplastic

epithelioid cyst ( J:205733 )

• epithelial cyst-like structures on the dorsal skin of adults

abnormal coat appearance ( J:205733 )

• characteristic hair types are replaced by abnormally pigmented, shorter, thinner hairs with misshaped and twisted medulla structures

alopecia ( J:205733 )

• extensive alopecia on the dorsal skin of adults

• alopecia appears during the first hair cycle and does not progress to open lesions, ulcers, or scarring

short hair ( J:205733 )

abnormal hair shaft morphology ( J:205733 )

• ingrown hair fibers

abnormal hair medulla ( J:205733 )

• hair medulla is abnormal with misaligned air cells

abnormal zigzag hair morphology ( J:205733 )

• affected follicles of mutants have only one hair type that resembles abnormal zigzag hair

abnormal nail morphology ( J:205733 )

• paws exhibit supernumerary claws that form on the lateral sides of digits

• claw dystrophies include unique outgrowths of the hyponychium that extends beyond the claw matrix

• supernumerary claw matrices are covered with compact keratin structures extending from the proximal claw fold

abnormal nail color ( J:205733 )

• pigmentation is increased in the claws

• hyperpigmentation is due to the presence of ectopic pigmented melanocytes in the dermal-epidermal junction in the claw matrix

abnormal nail matrix morphology ( J:205733 )

• presence of ectopic pigmented melanocytes in the dermal-epidermal junction in the claw matrix

abnormal hair follicle morphology ( J:205733 )

• hair follicle dystrophy on the dorsal skin of adults; prevalence is similar at 3 and 6 months of age

• skin and hair appear normal at P9, however dystrophic hair follicle cysts begin to form by 3 weeks of age and become prevalent by 3 months

• dystrophic follicle cysts form from hair follicle progenitor cells that fail to differentiate properly

• coiled hair follicles

• lipid-retaining cells are increased in tail hair follicles

abnormal hair follicle development ( J:205733 )

• dystrophic follicle cysts form from hair follicle progenitor cells that fail to differentiate properly

dilated hair follicle infundibulum ( J:205733 )

• dilated infundibulae on the dorsal skin of adults

• enlarged infundibula of dystrophic follicles sometimes contains keratin arranged in columns resembling a hair shaft and others that contain keratin with less structure

abnormal hair follicle orientation ( J:205733 )

• hair follicle orientation is abnormal, with fibers pointing towards the dermis instead of the epithelium

distorted hair follicle pattern ( J:205733 )

• disrupted hair follicle alignment

abnormal vibrissa morphology ( J:205733 )

• vibrissa hair fiber thickness and length are reduced

short vibrissae ( J:205733 )

abnormal epidermal layer morphology ( J:205733 )

• interfollicular epithelium is hyperpigmented

abnormal epidermis stratum basale morphology ( J:205733 )

• apoptosis is increased in the epidermal basal layer of the interfollicular skin at 6 months of age

hyperkeratosis ( J:205733 )

• hyperkeratosis is seen at 6 months of age

• foot skin epithelium is hyperkeratotic

thin epidermis stratum granulosum ( J:205733 )

• dystrophic follicular epithelium is often stratified without a significant granular layer

abnormal keratinocyte morphology ( J:205733 )

• keratinocytes in all layers are variable in cell size and shape

abnormal keratinocyte differentiation ( J:205733 )

• marker analysis indicates that hair differentiation is disrupted in KRT14-producing keratinocytes, however epidermal differentiation is maintained but control of homeostasis is disrupted

epidermal hyperplasia ( J:205733 )

• moderate epidermal hyperplasia is seen at 6 months of age

• hyperplastic epidermis in the tail skin

thick epidermis ( J:205733 )

increased foot pad pigmentation ( J:205733 )

• pigmentation is increased in the foot pads and feet

increased tail pigmentation ( J:205733 )

• tail skin shows a nonautonomous increase of pigment cells

• increase in number of melanoblasts in the interscale region of the tail

cellular

abnormal keratinocyte differentiation ( J:205733 )

• marker analysis indicates that hair differentiation is disrupted in KRT14-producing keratinocytes, however epidermal differentiation is maintained but control of homeostasis is disrupted

endocrine/exocrine glands

abnormal sebaceous gland morphology ( J:205733 )

• lipid-retaining cells are increased in sebaceous glands

Meibomian gland hyperplasia ( J:205733 )

• Meibomian glands are hyperplastic

limbs/digits/tail

increased foot pad pigmentation ( J:205733 )

• pigmentation is increased in the foot pads and feet

abnormal tail morphology ( J:205733 )

• the tail skin exhibits hyperkeratosis, hyperpigmentation, a reduction in normal hair, and an increase of lipid retaining cells

increased tail pigmentation ( J:205733 )

• tail skin shows a nonautonomous increase of pigment cells

• increase in number of melanoblasts in the interscale region of the tail

pigmentation

increased foot pad pigmentation ( J:205733 )

• pigmentation is increased in the foot pads and feet

increased tail pigmentation ( J:205733 )

• tail skin shows a nonautonomous increase of pigment cells

• increase in number of melanoblasts in the interscale region of the tail

ectopic melanocytes ( J:205733 )

• hyperpigmentation is due to the presence of ectopic pigmented melanocytes in the dermal-epidermal junction in the claw matrix

vision/eye

abnormal eyelid morphology ( J:205733 )

• enlarged eyelids

Meibomian gland hyperplasia ( J:205733 )

• Meibomian glands are hyperplastic

narrow eye opening ( J:205733 )

Genotype
MGI:5605729

cn19

• Allelic Composition: Hdac1^tm1.1Eno/Hdac1^tm1.1Eno; Hdac2^tm1.1Eno/Hdac2⁺; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

integument

abnormal coat appearance ( J:205733 )

• double mutants show similar but more obvious hair and skin phenotypes than single Hdac1 conditional homozygotes

• characteristic hair types are replaced by abnormally pigmented, shorter, thinner hairs with misshaped and twisted medulla structures

abnormal nail morphology ( J:205733 )

• mice show more severe supernumerary claw phenotypes than single Hdac1 conditional homozygotes

abnormal nail color ( J:205733 )

• mice show more severe pigmentation in the claws than single Hdac1 conditional homozygotes

abnormal vibrissa morphology ( J:205733 )

• vibrissa hair fiber thickness and length are reduced

short vibrissae ( J:205733 )

abnormal epidermal layer morphology ( J:205733 )

• interfollicular epithelium is hyperpigmented

hyperkeratosis ( J:205733 )

• foot skin epithelium is hyperkeratotic

increased foot pad pigmentation ( J:205733 )

• mice show more severe pigmentation of the footpads and feet than single Hdac1 conditional homozygotes

limbs/digits/tail

increased foot pad pigmentation ( J:205733 )

• mice show more severe pigmentation of the footpads and feet than single Hdac1 conditional homozygotes

pigmentation

increased foot pad pigmentation ( J:205733 )

• mice show more severe pigmentation of the footpads and feet than single Hdac1 conditional homozygotes

vision/eye

narrow eye opening ( J:205733 )

Genotype
MGI:3722899

cn20

• Allelic Composition: Prss8^tm1.1Hum/Prss8^tm1.2Hum; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * FVB/N * SJL

Early postnatal lethality and skin abnormalities in Prss8^tm1.1Hum/Prss8^tm1.2Hum Tg(KRT14-cre)1Ipc/0 mice

mortality/aging

postnatal lethality, complete penetrance ( J:100139 )

• die within 60 hours after birth

growth/size/body

decreased body weight ( J:100139 )

• newborns exhibit lower body weight

weight loss ( J:100139 )

• mutants lose more weight (10% in 6 hours vs. 2-3% in controls) as a result of dehydration

hematopoietic system

thymus medulla hypoplasia ( J:100139 )

• medullary hypoplasia in the thymus

homeostasis/metabolism

dehydration ( J:100139 )

impaired skin barrier function ( J:100139 )

• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements

abnormal lipid level ( J:100139 )

• the level of barrier-forming lipids with very long chain fatty acids that are covalently attached to proteins are significantly reduced in the epidermis

immune system

thymus medulla hypoplasia ( J:100139 )

• medullary hypoplasia in the thymus

integument

impaired skin barrier function ( J:100139 )

• impaired skin barrier function as indicated by dehydration, skin permeability assay and transepidermal water loss measurements

abnormal hair follicle morphology ( J:100139 )

• hair follicles are shorter and no keratin is visible

abnormal hair follicle development ( J:100139 )

• adnexal part of the skin shows dysmaturation of the hair follicles

decreased hair follicle number ( J:100139 )

abnormal epidermal layer morphology ( J:100139 )

• the lipid matrix composition is altered in the epidermis: bound omega-hydroxy fatty acid is decreased by 50%, fatty acid level is increased by 56% and the amount of covalently bound ceramides with an omega-hydroxy fatty acid and sphingosine groups is decreased by 27%

abnormal epidermis stratum corneum morphology ( J:100139 )

• stratum corneum is disorganized, more compact, and focally detached from the granular layer

• stratum corneum lipid composition is altered; sphingomyelin is increased 3.7-fold

abnormal corneocyte morphology ( J:100139 )

• corneocytes are enlarged

orthokeratosis ( J:100139 )

• orthokeratotic hyperkeratosis

reddish skin ( J:100139 )

• a few hours after birth, the skin appears reddish

wrinkled skin ( J:100139 )

• a few hours after birth, the skin appears wrinkled

endocrine/exocrine glands

thymus medulla hypoplasia ( J:100139 )

• medullary hypoplasia in the thymus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive congenital ichthyosis 4B		DOID:0060713	OMIM:242500	J:100139

Genotype
MGI:7621287

cn21

• Allelic Composition: Hsd3b6^tm1.1Hokh/Hsd3b6^tm1.1Hokh; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * C57BL/6JJcl * SJL

endocrine/exocrine glands

small Meibomian gland ( J:347048 )

integument

small Meibomian gland ( J:347048 )

vision/eye

small Meibomian gland ( J:347048 )

Genotype
MGI:3663452

cn22

• Allelic Composition: Vdr^tm2Ska/Vdr^tm2Ska; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj * SJL

integument

integument phenotype ( J:111828 )

N • topical application of MC903 a low calcemic analog of vitamin D to the ears does not cause obvious inflammation of the skin compared to Vdr^tm1Pcn homozygous controls

Genotype
MGI:6358685

cn23

• Allelic Composition: Nin^{tm1c(EUCOMM)Hmgu}/Nin^{tm1c(EUCOMM)Hmgu}; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

homeostasis/metabolism

impaired skin barrier function ( J:277726 )

• transepidermal water loss is increased in newborns, indicating that inside-out barrier is slightly compromised

integument

impaired skin barrier function ( J:277726 )

• transepidermal water loss is increased in newborns, indicating that inside-out barrier is slightly compromised

abnormal skin morphology ( J:277726 )

• skin shows reduced desmosome numbers and size

• desmosomes have an irregular morphology, with a faint, kinked desmoglea and with plaques appearing less dense with less keratin filaments attached

thin epidermis stratum basale ( J:277726 )

• relative thickness of the basal and spinous layers is 74% of wild-type

decreased keratohyalin granule number ( J:277726 )

decreased keratohyalin granule size ( J:277726 )

thin epidermis stratum granulosum ( J:277726 )

• the granular layer appears thinner, with cells that have less and smaller keratohyalin granules

• relative thickness of the granular layer is 49% of wild-type

thin epidermis stratum spinosum ( J:277726 )

• relative thickness of the basal and spinous layers is 74% of wild-type

thin epidermis ( J:277726 )

• newborns exhibit a thinner epidermis, with relative thickness of the epidermis being 67% of wild-type epidermis

thin skin ( J:277726 )

delayed skin barrier formation ( J:277726 )

• E17.5 mutants show dye penetration almost all over their surface indicating defective epidermal barrier formation, however by E18.5, epidermal barrier is normal and no dye penetration is seen

Genotype
MGI:3629393

cn24

• Allelic Composition: Rarg^tm3Ipc/Rarg^tm3Ipc; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * SJL

homeostasis/metabolism

impaired skin barrier function ( J:109090 )

• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased (7.51 g/hr vs 6.48 g/hr in controls

integument

impaired skin barrier function ( J:109090 )

• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased (7.51 g/hr vs 6.48 g/hr in controls

abnormal epidermal layer morphology ( J:109090 )

abnormal epidermis stratum corneum morphology ( J:109090 )

abnormal keratinocyte morphology ( J:109090 )

shiny skin ( J:109090 )

• newborns have skin with glossy appearance

Genotype
MGI:3839579

cn25

• Allelic Composition: Bcl11b^tm1.1Leid/Bcl11b^tm1.1Leid; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * SJL

homeostasis/metabolism

impaired skin barrier function ( J:147182 )

• delay in skin barrier establishment

• at E17.5 the rate of water loss from the dorsal surface is about 3 fold higher compared to controls but no difference is detected at E18.5

• at E17.5 the rate of water loss from the ventral surface is slightly higher compared to controls and at E18.5 the rate of water loss from the dorsal surface is about 2 to 3 fold higher compared to controls

integument

impaired skin barrier function ( J:147182 )

• delay in skin barrier establishment

• at E17.5 the rate of water loss from the dorsal surface is about 3 fold higher compared to controls but no difference is detected at E18.5

• at E17.5 the rate of water loss from the ventral surface is slightly higher compared to controls and at E18.5 the rate of water loss from the dorsal surface is about 2 to 3 fold higher compared to controls

abnormal epidermal layer morphology ( J:147182 )

• expression analysis suggests that terminal differentiation is impaired

abnormal epidermis stratum corneum morphology ( J:147182 )

• modest reduction in the number of cornified cell layers at E17.5 and E18.5

• impaired surface distribution of neutral lipids

Genotype
MGI:3629415

cn26

• Allelic Composition: Pparg^tm1.2Mtz/Pparg^tm1.2Mtz; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:109090 )

• no epidermal phenotype is apparent; epidermal layer and surface lipid distribution appear normal

Genotype
MGI:3629414

cn27

• Allelic Composition: Ppard^tm1Mtz/Ppard^tm1Mtz; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * SJL

homeostasis/metabolism

decreased cholesterol level ( J:109090 )

• there is a marked decrease in cholesterol in newborns

integument

abnormal skin morphology ( J:109090 )

• phenotype of newborn mutant epidermis is identical to that observed in Rxr loss-of-function newborns

abnormal epidermal layer morphology ( J:109090 )

• sqaumes from newborn mice display a smooth surface with small or lacking corneodesmosomes (CDs), compared to wild-type which have numerous regularly spaced plaques corresponding to CDs

abnormal keratinocyte morphology ( J:109090 )

abnormal skin condition ( J:109090 )

• skin of newborns appears dull

Genotype
MGI:3629396

cn28

• Allelic Composition: Rxrb^tm1Pcn/Rxrb^tm1Pcn; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:109090 )

• no epidermal phenotype is apparent

Genotype
MGI:3758082

cn29

• Allelic Composition: Taf4^tm1Idvd/Taf4^tm1Idvd; Tg(KRT14-cre)1Ipc/0
• Genetic Background: Not Specified

mortality/aging

neonatal lethality, complete penetrance ( J:124111 )

• death occurs shortly after birth

• no viable homozygotes are born

growth/size/body

weight loss ( J:124111 )

• size is normal at birth

• rapid and significant weight loss due to loss of water immediately after birth

• probably a significant factor in neonatal death

homeostasis/metabolism

impaired skin barrier function ( J:124111 )

• defective skin barrier function

• increased skin permeability, 10 fold increase in water loss

integument

impaired skin barrier function ( J:124111 )

• defective skin barrier function

• increased skin permeability, 10 fold increase in water loss

translucent skin ( J:124111 )

• embryos with shiny transparent skin at E18.5

thin skin ( J:124111 )

• very thin skin with reduced surface keratin