Phenotypes associated with this allele

• Allele Symbol: Tg(KRT14-cre)1Efu
• Allele Name: transgene insertion 1, Elaine Fuchs
• Allele ID: MGI:1926500
• Summary: 23 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Dsp^tm1Efu/Dsp^tm1Efu Tg(KRT14-cre)1Efu/0	involves: 129	MGI:2652092
cn2	Tcf7l1^tm1.1Efu/Tcf7l1^tm1.1Efu Tg(KRT14-cre)1Efu/0	involves: 129	MGI:4413470
cn3	Macf1^tm1Efu/Macf1^tm1Efu Tg(KRT14-cre)1Efu/0	involves: 129	MGI:3829003
cn4	Ctnnb1^tm4Wbm/Ctnnb1^+ Tg(KRT14-cre)1Efu/0	involves: 129P2/OlaHsd	MGI:5435570
cn5	Ctnnb1^tm4Wbm/Ctnnb1^tm4Wbm Tg(KRT14-cre)1Efu/0	involves: 129P2/OlaHsd	MGI:4413472
cn6	Ezh1^tm1Jnw/Ezh1^tm1Jnw Ezh2^tm1Tara/Ezh2^tm1Tara Tg(KRT14-cre)1Efu/0	involves: 129P2/OlaHsd	MGI:4941024
cn7	Ago2^tm1.1Tara/Ago2^tm1.1Tara Tg(KRT14-cre)1Efu/0	involves: 129P2/OlaHsd	MGI:5319525
cn8	Ago1^tm1.1Tara/Ago1^tm1.1Tara Ago2^tm1.1Tara/Ago2^tm1.1Tara Tg(KRT14-cre)1Efu/0	involves: 129P2/OlaHsd	MGI:5319527
cn9	Dicer1^tm1Tara/Dicer1^tm1Tara Tg(KRT14-cre)1Efu/0	involves: 129P2/OlaHsd	MGI:5319528
cn10	Dicer1^tm1Tara/Dicer1^tm1Tara Tg(KRT14-cre)1Efu/?	involves: 129P2/OlaHsd * CD-1	MGI:3625829
cn11	Cdh1^tm2Kem/Cdh1^tm2Kem Tg(KRT14-cre)1Efu/0 Tg(Krt14-RNAi:Cdh3)1Efu/0	involves: 129S1/Sv * 129X1/SvJ	MGI:3830547
cn12	Kdr^tm1.1Jamb/Kdr^tm1.1Jamb Tg(KRT14-cre)1Efu/0	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:4367771
cn13	Porcn^tm1.1Vdv/Y Tg(KRT14-cre)1Efu/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J	MGI:5435568
cn14	Porcn^tm1.1Vdv/Porcn^+ Tg(KRT14-cre)1Efu/0	involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J	MGI:5435569
cn15	Ctnnd1^tm1Abre/Ctnnd1^tm1Abre Tg(KRT14-cre)1Efu/?	involves: 129S6/SvEvTac	MGI:3826503
cn16	Tcf7l1^tm1.1Efu/Tcf7l1^tm1.1Efu Tcf7l2^tm1Cle/Tcf7l2^tm1Cle Tg(KRT14-cre)1Efu/0	involves: 129/Sv * 129P2/OlaHsd	MGI:4413471
cn17	Map2k1^tm1Chrn/Map2k1^tm1Chrn Map2k2^tm1Chrn/Map2k2^tm1Chrn Tg(KRT14-cre)1Efu/?	involves: 129/Sv * C57BL/6J * SJL	MGI:3714928
cn18	Itgb1^tm1Efu/Itgb1^tm1Efu Tg(KRT14-cre)1Efu/0	involves: 129X1/SvJ	MGI:2448680
cn19	Ctnna1^tm1Efu/Ctnna1^tm1Efu Tg(KRT14-cre)1Efu/?	involves: 129X1/SvJ	MGI:3720633
cn20	Atf2^tm3Nicj/Atf2^tm3Nicj Tg(KRT14-cre)1Efu/?	involves: C57BL/6 * FVB/N	MGI:3774840
cn21	Mir203^tm1.1Yir/Mir203^tm1.1Yir Tg(KRT14-cre)1Efu/0	involves: C57BL/6 * SJL	MGI:5698459
cn22	Ago1^tm1.1Tara/Ago1^tm1.1Tara Tg(KRT14-cre)1Efu/0	Not Specified	MGI:5319526
cn23	Casp8^tm1Hed/Casp8^tm1Hed Tg(KRT14-cre)1Efu/0	Not Specified	MGI:4888399

Genotype
MGI:2652092

cn1

• Allelic Composition: Dsp^tm1Efu/Dsp^tm1Efu; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129

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

cellular

abnormal cell adhesion ( J:67797 )

• mice have severe intracellular adhesion defects

integument

abnormal epidermal layer morphology ( J:67797 , J:73084 )

• large sections of the epidermis are missing and visible peeling occurs (J:67797)

• after mechanical stress, newborn mice show epithelial peeling (J:73084)

abnormal epidermis stratum basale morphology ( J:73084 )

• at E18.5, intracellular separation is pronounced

abnormal corneocyte envelope morphology ( J:73084 )

• cornified envelopes are bubble-bath like

abnormal epidermis stratum spinosum morphology ( J:73084 )

• at E18.5, intracellular separation is pronounced

Genotype
MGI:4413470

cn2

• Allelic Composition: Tcf7l1^tm1.1Efu/Tcf7l1^tm1.1Efu; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129

normal phenotype

no abnormal phenotype detected ( J:155012 )

• mice appear phenotypically normal

Genotype
MGI:3829003

cn3

• Allelic Composition: Macf1^tm1Efu/Macf1^tm1Efu; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129

homeostasis/metabolism

delayed wound healing ( J:143595 )

• areas of hyperproliferating epithelium at wound sites are decreased by more than 30% over 2 to 4 days after injury compared to in similarly treated wild-type mice

• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells

integument

increased keratinocyte adhesion ( J:143595 )

• keratinocytes exhibit stronger focal adhesions in culture than wild-type cells

decreased keratinocyte migration ( J:143595 )

• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells

• keratinocytes, in culture, exhibit a 60% decrease in average migration speed on fibronectin compared to wild-type cells

• rates of proliferation and apoptosis are normal, and reducing the underlying matrix protein in culture can restore migration speeds to normal

cellular

increased keratinocyte adhesion ( J:143595 )

• keratinocytes exhibit stronger focal adhesions in culture than wild-type cells

decreased keratinocyte migration ( J:143595 )

• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells

• keratinocytes, in culture, exhibit a 60% decrease in average migration speed on fibronectin compared to wild-type cells

• rates of proliferation and apoptosis are normal, and reducing the underlying matrix protein in culture can restore migration speeds to normal

Genotype
MGI:5435570

cn4

• Allelic Composition: Ctnnb1^tm4Wbm/Ctnnb1⁺; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129P2/OlaHsd

Lack of hair follicles in Ctnnb1^tm4Wbm/Ctnnb1⁺ Tg(KRT14-cre)1Efu/0 mice

integument

alopecia ( J:186934 )

absent hair follicles ( J:186934 )

Genotype
MGI:4413472

cn5

• Allelic Composition: Ctnnb1^tm4Wbm/Ctnnb1^tm4Wbm; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129P2/OlaHsd

mortality/aging

neonatal lethality, complete penetrance ( J:155012 )

• mice die shortly after birth

integument

absent hair follicles ( J:155012 )

thick epidermis ( J:155012 )

• in newborns and when skin is grafted onto wild-type mice

Genotype
MGI:4941024

cn6

• Allelic Composition: Ezh1^tm1Jnw/Ezh1^tm1Jnw; Ezh2^tm1Tara/Ezh2^tm1Tara; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129P2/OlaHsd

cellular

increased hair follicle apoptosis ( J:169295 )

• hair follicle cells exhibit increased apoptosis unlike wild-type cells

mortality/aging

neonatal lethality, complete penetrance ( J:169295 )

• mice die within 24 hours of birth

integument

integument phenotype ( J:169295 )

N • mice do not exhibit skin inflammation

increased hair follicle apoptosis ( J:169295 )

• hair follicle cells exhibit increased apoptosis unlike wild-type cells

abnormal hair growth ( J:169295 )

• hair follicles in skin grafts arrest in the first growth phase of the hair cycle

• skin grafts on nude mice remain hairless unlike wild-type grafts

abnormal hair follicle infundibulum morphology ( J:169295 )

• skin grafts exhibit hyperproliferation in the infundibulum compared with wild-type cells

abnormal hair follicle outer root sheath morphology ( J:169295 )

• hair follicle stem cells in the lower outer root sheath zone exhibit decreased proliferation compared with wild-type cells

hair follicle degeneration ( J:169295 )

• hair follicle stem cells in the lower outer root sheath zone exhibit decreased proliferation regardless of stimulation compared with wild-type cells

small hair follicles ( J:169295 )

• hair follicles in skin grafts arrest in the first growth phase of the hair cycle

epidermal hyperplasia ( J:169295 )

behavior/neurological

absent gastric milk in neonates ( J:169295 )

Genotype
MGI:5319525

cn7

• Allelic Composition: Ago2^tm1.1Tara/Ago2^tm1.1Tara; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129P2/OlaHsd

normal phenotype

no abnormal phenotype detected ( J:183622 )

• no developmental defects are detected

Genotype
MGI:5319527

cn8

• Allelic Composition: Ago1^tm1.1Tara/Ago1^tm1.1Tara; Ago2^tm1.1Tara/Ago2^tm1.1Tara; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129P2/OlaHsd

integument

epidermal cyst ( J:183622 )

• evaginating hair follicle cysts in the epidermis at P4

sparse hair ( J:183622 )

abnormal hair follicle morphology ( J:183622 )

• evaginating hair follicle cysts in the epidermis at P4

abnormal hair follicle development ( J:183622 )

• shortened and misangled hair follicle growth at P4

hair follicle degeneration ( J:183622 )

thick epidermis ( J:183622 )

• hyperthickened

abnormal skin physiology ( J:183622 )

• apoptotic cells in the basal epidermis

growth/size/body

epidermal cyst ( J:183622 )

• evaginating hair follicle cysts in the epidermis at P4

Genotype
MGI:5319528

cn9

• Allelic Composition: Dicer1^tm1Tara/Dicer1^tm1Tara; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129P2/OlaHsd

integument

epidermal cyst ( J:183622 )

• evaginating hair follicle cysts in the epidermis at P4

abnormal coat/ hair morphology ( J:201587 )

• less developed hair coat at P4.5

abnormal hair follicle morphology ( J:183622 )

• evaginating hair follicle cysts in the epidermis at P4

abnormal hair follicle development ( J:183622 , J:201587 )

• shortened and misangled hair follicle growth at P4 (J:183622)

• mice exhibit the loss of hair follicle stem cells in the bulge unlike in wild-type cells (J:201587)

abnormal skin appearance ( J:201587 )

• dehydrated at P4.5

abnormal skin physiology ( J:183622 )

• apoptotic cells in the basal epidermis

growth/size/body

epidermal cyst ( J:183622 )

• evaginating hair follicle cysts in the epidermis at P4

decreased body size ( J:201587 )

• at P4.5

Genotype
MGI:3625829

cn10

• Allelic Composition: Dicer1^tm1Tara/Dicer1^tm1Tara; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: 129P2/OlaHsd * CD-1

mortality/aging

postnatal lethality, complete penetrance ( J:106792 )

• began to lose weight within 1-2 day after birth, and died by day 6

• mutant mice are normal at birth and continued to feed for several days

homeostasis/metabolism

dehydration ( J:106792 )

• appeared dehydrated before death

cellular

increased apoptosis ( J:106792 )

• showed signs of apoptosis in skin as early as E17.5

• frequency of apoptosis was higher in the hair germ

• at P6.5, apoptosis is enriched in hair follicles, including abnormal cysts in the epidermis

integument

abnormal hair follicle morphology ( J:106792 )

• hair germs appear to evaginate into the epidermis

• hair germ-like cysts became prevalent, markedly distorting the overlying epidermis

abnormal vibrissa morphology ( J:106792 )

• showed malformed whiskers

Genotype
MGI:3830547

cn11

• Allelic Composition: Cdh1^tm2Kem/Cdh1^tm2Kem; Tg(KRT14-cre)1Efu/0; Tg(Krt14-RNAi:Cdh3)1Efu/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:144091 )

• mice die within 1 to 2 hours of birth

growth/size/body

decreased birth body size ( J:144091 )

• mice are small at birth

homeostasis/metabolism

impaired skin barrier function ( J:144091 )

• unlike in wild-type mice, dye is readily absorbed through the paws, facial skin, ear buds and lower belly

integument

decreased hair follicle number ( J:144091 )

abnormal epidermal layer morphology ( J:144091 )

• mice exhibit focal gaps in the epithelial sheets of the epidermis due to degeneration of cells

• however, desmosomes are still present in normal numbers

• intercellular junctions are perturbed unlike in wild-type epidermis

• adherence and tight junction components fail to localize to cell borders unlike in wild-type epidermis

abnormal epidermis stratum basale morphology ( J:144091 )

• the typically columnar orientation of cells within the basal layer and flattened squamous morphology of the suprabasal cells are lost

abnormal epidermis stratum spinosum morphology ( J:144091 )

• cells in the spinous layer fail to flatten as in wild-type mice

abnormal epidermis suprabasal layer morphology ( J:144091 )

• the typically columnar orientation of cells within the basal layer and flattened squamous morphology of the suprabasal cells are lost

• unlike in wild-type mice, cells within condensed nuclei indicating apoptosis are found in the suprabasal layer

• suprabasal keratin intermediate filament organization is perturbed compared to in wild-type mice

thick epidermis ( J:144091 )

blistering ( J:144091 )

• around the mouth, umbilicus and tail

flaky skin ( J:144091 )

• ventrally

shiny skin ( J:144091 )

tight skin ( J:144091 )

abnormal skin condition ( J:144091 )

• skin is inflexible

abnormal skin physiology ( J:144091 )

• mice exhibit increased apoptosis in the epidermis compared to wild-type mice

• however, cell proliferation in the epidermis is normal, and no inflammatory response is observed

impaired skin barrier function ( J:144091 )

• unlike in wild-type mice, dye is readily absorbed through the paws, facial skin, ear buds and lower belly

Genotype
MGI:4367771

cn12

• Allelic Composition: Kdr^tm1.1Jamb/Kdr^tm1.1Jamb; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

immune system

lymphatic vessel hyperplasia ( J:154336 )

• skin lymphatic vessels are dilated and hyperplastic compared to in wild-type mice

Genotype
MGI:5435568

cn13

• Allelic Composition: Porcn^tm1.1Vdv/Y; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J

Dental and skin abnormalities and alopecia in Porcn^tm1.1Vdv/Y Tg(KRT14-cre)1Efu/0 mice

integument

abnormal hypodermis fat layer morphology ( J:186934 )

♂ • in areas with thin skin the subcutaneous fat is directly adjacent to the outermost epidermal layers

alopecia ( J:186934 )

♂ • have large areas of thin skin with alopecia

♂ • mosaic pattern of the phenotype is consistent with variable Cre expression

abnormal hair follicle development ( J:186934 )

♂ • early budding of epidermal cells to form the hair placodes does not take place

thin skin ( J:186934 )

♂ • have large areas of thin skin with alopecia

♂ • mosaic pattern of the phenotype is consistent with variable Cre expression

craniofacial

abnormal tooth morphology ( J:186934 )

♂ • missing and hypoplastic teeth

adipose tissue

abnormal hypodermis fat layer morphology ( J:186934 )

♂ • in areas with thin skin the subcutaneous fat is directly adjacent to the outermost epidermal layers

growth/size/body

abnormal tooth morphology ( J:186934 )

♂ • missing and hypoplastic teeth

skeleton

abnormal tooth morphology ( J:186934 )

♂ • missing and hypoplastic teeth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:186934

Genotype
MGI:5435569

cn14

• Allelic Composition: Porcn^tm1.1Vdv/Porcn⁺; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J

integument

abnormal hair growth ( J:186934 )

♀ • barely detectable hair loss

Genotype
MGI:3826503

cn15

• Allelic Composition: Ctnnd1^tm1Abre/Ctnnd1^tm1Abre; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: 129S6/SvEvTac

neoplasm

increased skin tumor incidence ( J:143096 )

• mice die of an inflammatory skin disease by day 15 so to study effects of the alleles on skin cancer, new born back skin was grafted onto immunocompromised nude mice

• within 15 to 50 days after engraftment, 100% of grafts display signs of epidermal hyperkeratosis compared with their wild-type counterparts

• 50 days after engraftment, grafts develop raised nodules that soon began to ulcerate and adopt an erythematous crateriform appearance

• epithelial undulations with eosinophilic keratinized debris accompany the papilloma-like protuberances 50 days post engraftment

• by 70 days, dysplastic keratinocytes had populated the invaginations

• aberrant clusters of pigment-filled melanocytes, typically confined to skin epithelium, are frequent in the dermis after 70 days

cellular

binucleate ( J:143096 )

• binucleated cells are observed in newborn skin that is grafted onto nude mice

• these cells are often observed in differentiating layers

integument

retarded hair growth ( J:143096 )

• new born back skin grafted onto immunocompromised nude mice have a paucity of hair due to the development of skin tumors

epidermal hyperplasia ( J:143096 )

• there is an enhancement of actively cycling cells in new born back skin grafted onto immunocompromised nude mice

• this hyperproliferation is dependent on surrounding inflammation and will normalize under anti-inflammatory treatment

increased skin tumor incidence ( J:143096 )

• mice die of an inflammatory skin disease by day 15 so to study effects of the alleles on skin cancer, new born back skin was grafted onto immunocompromised nude mice

• within 15 to 50 days after engraftment, 100% of grafts display signs of epidermal hyperkeratosis compared with their wild-type counterparts

• 50 days after engraftment, grafts develop raised nodules that soon began to ulcerate and adopt an erythematous crateriform appearance

• epithelial undulations with eosinophilic keratinized debris accompany the papilloma-like protuberances 50 days post engraftment

• by 70 days, dysplastic keratinocytes had populated the invaginations

• aberrant clusters of pigment-filled melanocytes, typically confined to skin epithelium, are frequent in the dermis after 70 days

Genotype
MGI:4413471

cn16

• Allelic Composition: Tcf7l1^tm1.1Efu/Tcf7l1^tm1.1Efu; Tcf7l2^tm1Cle/Tcf7l2^tm1Cle; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd

integument

abnormal hair follicle morphology ( J:155012 )

• hair follicles appear but exhibit defects in subsequent down-growth compared to in wild-type mice

absent hair follicles ( J:155012 )

• in skin grafts

absent vibrissae ( J:155012 )

• newborn mice often lack whiskers unlike wild-type mice

abnormal epidermis stratum basale morphology ( J:155012 )

• basal cells are flattened unlike in wild-type mice

thin epidermis ( J:155012 )

thin skin ( J:155012 )

• in newborn mice

abnormal skin physiology ( J:155012 )

• at P0, skin cells exhibit increased cell death compared to in wild-type mice

• grafted skin exhibits no hair and shrunk area without inflammation compared with wild-type skin grafts

• cultured skin epithelial fails to undergo long-term tissue maintenance unlike wild-type skin

decreased keratinocyte proliferation ( J:155012 )

• cultured keratinocytes from P0 mice exhibit decreased proliferation compared with wild-type cells

cellular

decreased keratinocyte proliferation ( J:155012 )

• cultured keratinocytes from P0 mice exhibit decreased proliferation compared with wild-type cells

Genotype
MGI:3714928

cn17

• Allelic Composition: Map2k1^tm1Chrn/Map2k1^tm1Chrn; Map2k2^tm1Chrn/Map2k2^tm1Chrn; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

mortality/aging

neonatal lethality, incomplete penetrance ( J:122484 )

• the majority of mice die within 24 hours of birth

digestive/alimentary system

abnormal tongue epithelium morphology ( J:122484 )

• mice display full-thickness epithelium death and detachment from the underlying tissue

• however, suckling behavior was not altered

growth/size/body

abnormal tongue epithelium morphology ( J:122484 )

• mice display full-thickness epithelium death and detachment from the underlying tissue

• however, suckling behavior was not altered

abnormal outer ear morphology ( J:122484 )

• ear flaps are detached

decreased body size ( J:122484 )

• mice are smaller at birth

decreased body weight ( J:122484 )

• mice lose 4%-10% of birth weight within 6 hours

hearing/vestibular/ear

abnormal outer ear morphology ( J:122484 )

• ear flaps are detached

vision/eye

eyelids open at birth ( J:122484 )

• in some mice

homeostasis/metabolism

impaired skin barrier function ( J:122484 )

• mice lose 4%-10% of birth weight within 6 hours and dye is more readily absorbed than in wild-type mice

craniofacial

abnormal tongue epithelium morphology ( J:122484 )

• mice display full-thickness epithelium death and detachment from the underlying tissue

• however, suckling behavior was not altered

abnormal outer ear morphology ( J:122484 )

• ear flaps are detached

integument

increased keratinocyte apoptosis ( J:122484 )

• at E17.5, keratinocytes in the basal layer but not in the hair follicles undergo increased apoptosis compared to normal

impaired skin barrier function ( J:122484 )

• mice lose 4%-10% of birth weight within 6 hours and dye is more readily absorbed than in wild-type mice

decreased hair follicle number ( J:122484 )

• fewer hair follicles are present including 37% fewer peleage follicles

abnormal vibrissa follicle morphology ( J:122484 )

• 90% fewer vibrissae follicles compared to wild-type mice

decreased hair follicle cell proliferation ( J:122484 )

• hair follicles undergo reduced proliferation

shiny skin ( J:122484 )

translucent skin ( J:122484 )

skin hypoplasia ( J:122484 )

• epidermis is hypoplastic

cellular

increased keratinocyte apoptosis ( J:122484 )

• at E17.5, keratinocytes in the basal layer but not in the hair follicles undergo increased apoptosis compared to normal

Genotype
MGI:2448680

cn18

• Allelic Composition: Itgb1^tm1Efu/Itgb1^tm1Efu; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129X1/SvJ

mortality/aging

neonatal lethality, incomplete penetrance ( J:65039 )

• usually die within a few hours of birth

integument

abnormal hair follicle development ( J:65039 )

• hair follicle keratinocytes fail to remodel basement membrane and invaginate into the dermis

decreased hair follicle number ( J:65039 )

• developing hair follicles are scarce, although a few mature hair follicles, most likely guard hairs, are detected

abnormal epidermal layer morphology ( J:65039 )

• epidermal proliferation is inhibited, however a spatial and temporal program of terminal differentiation does occur

abnormal epidermis stratum basale morphology ( J:65039 )

• basal cells of the epidermis are flat and the nucleus is oriented parallel to the basement membrane

thin epidermis ( J:65039 )

• epidermis consists of a flattened basal layer and only one or two layers of suprabasal layers before the stratum corneum

dermal-epidermal separation ( J:65039 )

• many areas of skin exhibit separations at the dermal-epidermal junction, such that in severely affected areas, the epidermis is detached entirely from the dermis

blistering ( J:65039 )

• severe skin blistering

abnormal skin condition ( J:65039 )

• exhibit separation of the dermal-epidermal junction upon mechanical trauma, indicating fragile skin, however do not display denuding

thin skin ( J:65039 )

• thin and fragile

cellular

abnormal basement membrane morphology ( J:65039 )

• basement membrane assembly/organization is impaired, leading to a loss of extracellular matrix and hemidesmosomes

• skin shows discontinuity of the lamina densa

Genotype
MGI:3720633

cn19

• Allelic Composition: Ctnna1^tm1Efu/Ctnna1^tm1Efu; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: 129X1/SvJ

cellular

abnormal cell adhesion ( J:67797 )

• mice have severe intracellular adhesion defects

increased keratinocyte proliferation ( J:67797 )

• in culture, keratinocytes overgrow the monolayer, grow faster than wild-type cells, do not require a feeder layer, are more sensitive to growth factors, and have an increased ability to breakdown matrix

craniofacial

pointed snout ( J:67797 )

limbs/digits/tail

abnormal limb development ( J:67797 )

• limbs fail to develop completely

integument

increased keratinocyte proliferation ( J:67797 )

• in culture, keratinocytes overgrow the monolayer, grow faster than wild-type cells, do not require a feeder layer, are more sensitive to growth factors, and have an increased ability to breakdown matrix

abnormal hair follicle development ( J:67797 )

• mice have diminished signs of hair follicle development

absent vibrissae ( J:67797 )

abnormal dermal layer morphology ( J:67797 )

• epidermal-dermal boundary was difficult to discern

• clumps of keratinocytes with morphology and differentiation characteristic of epidermis and not hair follicles and that are devoid of surface epidermis are present within the dermis

abnormal epidermal layer morphology ( J:67797 )

• large sections of the epidermis are missing

abnormal epidermis stratum basale morphology ( J:67797 )

• epidermis is thick and disorganized, particularly within the basal cell layer

• basal cells are round and spinous

thick epidermis stratum basale ( J:67797 )

abnormal keratinocyte morphology ( J:67797 )

• keratinocytes are frequently binucleated and unusually large

epidermal desquamation ( J:67797 )

• visible peeling occurs

thick epidermis ( J:67797 )

• epidermis is thick and disorganized, particularly within the basal cell layer

• epidermal-dermal boundary was difficult to discern

growth/size/body

pointed snout ( J:67797 )

Genotype
MGI:3774840

cn20

• Allelic Composition: Atf2^tm3Nicj/Atf2^tm3Nicj; Tg(KRT14-cre)1Efu/?
• Genetic Background: involves: C57BL/6 * FVB/N

neoplasm

increased skin papilloma incidence ( J:131564 )

• the median appearance of skin papillomas after topical application of carcinogens is five to six weeks earlier than in littermate controls

• mice have significantly greater numbers of papillomas 20 weeks after carcinogen treatment with a mean of 7 compared to 3 in littermate controls

integument

epidermal hyperplasia ( J:131564 )

• the percentage of proliferating epithelial cells after TPA administration is twice that of littermate controls

• reduced levels of active caspase 3 were observed in the skin of mice treated with carcinogens suggesting apoptosis levels might be lower

thick epidermis ( J:131564 )

• mice develop a significantly thickened hyperdermis after three topical applications of TPA

• thickness is twice that of wild-type mice after TPA application

increased skin papilloma incidence ( J:131564 )

• the median appearance of skin papillomas after topical application of carcinogens is five to six weeks earlier than in littermate controls

• mice have significantly greater numbers of papillomas 20 weeks after carcinogen treatment with a mean of 7 compared to 3 in littermate controls

Genotype
MGI:5698459

cn21

• Allelic Composition: Mir203^tm1.1Yir/Mir203^tm1.1Yir; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: C57BL/6 * SJL

normal phenotype

no abnormal phenotype detected ( J:226044 )

• mice are viable and exhibit no developmental defects

Genotype
MGI:5319526

cn22

• Allelic Composition: Ago1^tm1.1Tara/Ago1^tm1.1Tara; Tg(KRT14-cre)1Efu/0
• Genetic Background: Not Specified

normal phenotype

no abnormal phenotype detected ( J:183622 )

• no developmental defects are detected

Genotype
MGI:4888399

cn23

• Allelic Composition: Casp8^tm1Hed/Casp8^tm1Hed; Tg(KRT14-cre)1Efu/0
• Genetic Background: Not Specified

mortality/aging

premature death ( J:167299 )

• about 10% of mutants exhibit a mosaic skin phenotype and survive for months

postnatal lethality, incomplete penetrance ( J:167299 )

• about 90% of mutants die by P15, while 10% survive for months

integument

impaired skin barrier function ( J:167299 )

• mutants exhibit an increase in epidermal water loss

dermatitis ( J:167299 )

• mutants develop atopic dermatitis-like skin disease

• about 90% of mutants exhibit a uniform skin phenotype and die by P15 while mutants that survive longer than P15, exhibit the skin phenotype on the posterior region of the back skin

abnormal skin morphology ( J:167299 )

• 2.5-fold increase in the numbers of blood vessels in the skin as indicated by marker analysis

abnormal skin vasculature morphology ( J:167299 )

• 2.5-fold increase in the numbers of blood vessels in the skin as indicated by marker analysis

skin edema ( J:167299 )

• cutaneous edema is seen in the ears and feet

epidermal spongiosis ( J:167299 )

• affected skin of mutants surviving longer than P15 shows suprabasal cells with increased intracellular space, indicating development of spongiosis

abnormal epidermal layer morphology ( J:167299 )

• hyperproliferation of epithelial stem/progenitor cells in the skin

acanthosis ( J:167299 )

abnormal keratinocyte morphology ( J:167299 )

• the intracellular adhesion apparatus of the epidermis is disrupted, with keratinocytes showing an abnormal punctate localization of E-cadherin (Cdh1) due to increased shedding of E-cadherin

epidermal hyperplasia ( J:167299 )

• mutants exhibit epidermal hyperplasia

• topical application of clobetasol, a corticosteroid, substantially reduces the epidermal hyperplasia and abolishes the epidermal gaps

thick epidermis ( J:167299 )

dry skin ( J:167299 )

scaly skin ( J:167299 )

immune system

increased mast cell number ( J:167299 )

• mutants exhibit an increase in mast cells with age

increased IgE level ( J:167299 )

• IgE levels are normal in young mutants but adults show a 30-fold increase compared to wild-type mice

increased IgG1 level ( J:167299 )

• 5-fold increase in serum IgG1 levels in adults

abnormal T cell physiology ( J:167299 )

• marker analysis indicates that mutants exhibit a biphastic T-helper cell response, with a TH2 response during the acute phase of dermatitis followed by a TH1 response during the chronic phase of dermatitis

dermatitis ( J:167299 )

• mutants develop atopic dermatitis-like skin disease

• about 90% of mutants exhibit a uniform skin phenotype and die by P15 while mutants that survive longer than P15, exhibit the skin phenotype on the posterior region of the back skin

homeostasis/metabolism

skin edema ( J:167299 )

• cutaneous edema is seen in the ears and feet

epidermal spongiosis ( J:167299 )

• affected skin of mutants surviving longer than P15 shows suprabasal cells with increased intracellular space, indicating development of spongiosis

impaired skin barrier function ( J:167299 )

• mutants exhibit an increase in epidermal water loss

hematopoietic system

increased mast cell number ( J:167299 )

• mutants exhibit an increase in mast cells with age

increased IgE level ( J:167299 )

• IgE levels are normal in young mutants but adults show a 30-fold increase compared to wild-type mice

increased IgG1 level ( J:167299 )

• 5-fold increase in serum IgG1 levels in adults

abnormal T cell physiology ( J:167299 )

• marker analysis indicates that mutants exhibit a biphastic T-helper cell response, with a TH2 response during the acute phase of dermatitis followed by a TH1 response during the chronic phase of dermatitis

cardiovascular system

abnormal skin vasculature morphology ( J:167299 )

• 2.5-fold increase in the numbers of blood vessels in the skin as indicated by marker analysis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:167299