Phenotypes associated with this allele

• Allele Symbol: Tg(KRT14-cre)1Amc
• Allele Name: transgene insertion 1, Andrew P McMahon
• Allele ID: MGI:2445832
• Summary: 45 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Nmi^tm1.1Geno/Nmi^tm1.1Geno Tg(KRT14-cre)1Amc/0	B6.Cg-Nmi^tm1.1Geno Tg(KRT14-cre)1Amc	MGI:6402593
cn2	Adamts9^tm1.1Cvrk/Adamts9^tm1.1Cvrk Tg(KRT14-cre)1Amc/0	C3FeJ.Cg-Adamts9^tm1.1Cvrk Tg(KRT14-cre)1Amc	MGI:6163986
cn3	Adamts9^tm1.1Cvrk/Adamts9^tm1.1Cvrk Tg(KRT14-cre)1Amc/0 Tg(Mitf-cre)7114Gsb/0	C3FeJ.Cg-Adamts9^tm1.1Cvrk Tg(KRT14-cre)1Amc Tg(Mitf-cre)7114Gsb	MGI:6163989
cn4	Palb2^tm1.1Dli/Palb2^tm1.1Dli Trp53^tm1Brn/Trp53^tm1Brn Tg(KRT14-cre)1Amc/0	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5495972
cn5	Palb2^tm1.1Dli/Palb2^tm1.1Dli Trp53^tm1Brn/Trp53^+ Tg(KRT14-cre)1Amc/0	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5495973
cn6	Pggt1b^tm1Mbrg/Pggt1b^tm1Mbrg Tg(KRT14-cre)1Amc/?	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:4442806
cn7	Fntb^tm1.1Mbrg/Fntb^tm1.1Mbrg Tg(KRT14-cre)1Amc/?	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:4442842
cn8	Fntb^tm1.1Mbrg/Fntb^tm1.1Mbrg Pggt1b^tm1Mbrg/Pggt1b^tm1Mbrg Tg(KRT14-cre)1Amc/?	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:4442843
cn9	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(KRT14-cre)1Amc/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:6455789
cn10	Col1a1^tm1(tetO-YAP1*)Fcam/Col1a1^+ Gt(ROSA)26Sor^tm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor^+ Tg(KRT14-cre)1Amc/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA	MGI:5316468
cn11	Shh^tm1Amc/Shh^tm2Amc Tg(KRT14-cre)1Amc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:3584381
cn12	Ilk^tm1Star/Ilk^tm1Star Tg(KRT14-cre)1Amc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:5009418
cn13	Slc39a10^tm1.1Tfk/Slc39a10^tm1.1Tfk Tg(KRT14-cre)1Amc/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA	MGI:6112650
cn14	Tg(KRT14-cre)1Amc/0 Trpv3^tm1.1Clph/Trpv3^tm1.1Clph	involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * CBA * Swiss Webster	MGI:4836900
cn15	Yap1^tm1.1Fcam/Yap1^tm2.1Fcam Tg(KRT14-cre)1Amc/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:5316467
cn16	Itga9^tm2Des/Itga9^tm2Des Tg(KRT14-cre)1Amc/?	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3832489
cn17	Dgat1^tm2Far/Dgat1^tm2Far Tg(KRT14-cre)1Amc/?	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3842510
cn18	Yap1^tm1.1Fcam/Yap1^tm1.1Fcam Tg(KRT14-cre)1Amc/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:5316466
cn19	Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo Tg(KRT14-cre)1Amc/0	involves: 129S4/SvJae * C57BL/6J * C57BL/6N * CBA	MGI:7338978
cn20	Egfr^tm1Dwt/Egfr^tm1Dwt Tg(KRT14-cre)1Amc/0	involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * CBA	MGI:3834096
cn21	Dsc3^tm2Pko/Dsc3^tm2Pko Tg(KRT14-cre)1Amc/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3812331
cn22	Egfr^tm1Dwt/Egfr^tm1Dwt Tg(KRT14-cre)1Amc/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3834097
cn23	Gak^tm2Legr/Gak^tm2Legr Tg(KRT14-cre)1Amc/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5305779
cn24	Atoh1^tm4.1Hzo/Atoh1^+ Piezo2^tm2.2Apat/Piezo2^tm2.2Apat Tg(KRT14-cre)1Amc/0	involves: 129S7/SvEvBrd * C57BL/6 * CBA	MGI:5577087
cn25	Nmi^tm1.1Geno/Nmi^tm1.1Geno Tg(KRT14-cre)1Amc/0 Tg(MMTVneu)202Mul/0	involves: 129S/SvEv * C57BL/6 * CBA * FVB/N	MGI:6402594
cn26	Gt(ROSA)26Sor^tm1(Ntn4)Dyl/Gt(ROSA)26Sor^+ Tg(KRT14-cre)1Amc/0	involves: 129/Sv * C57BL/6 * CBA	MGI:4820720
cn27	Smo^tm1Amc/Smo^tm2Amc Tg(KRT14-cre)1Amc/0	involves: 129X1/SvJ * C57BL/6 * CBA	MGI:2651648
cn28	Mir31^tm1.1Smoc/Mir31^tm1.1Smoc Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * C57BL/6J * CBA	MGI:6358368
cn29	Plcd1^tm1.1Kfu/Plcd1^tm1.1Kfu Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * C57BL/6JJcl * CBA	MGI:5547367
cn30	Osbpl3^tm1c(EUCOMM)Wtsi/Osbpl3^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * C57BL/6N * CBA	MGI:7767823
cn31	Wasl^tm1.1Ttha/Wasl^tm1.1Ttha Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * C57BL/6N * CBA	MGI:6295452
cn32	Ddr2^tm1c(EUCOMM)Wtsi/Ddr2^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0 Tg(MMTV-PyVT)634Mul/0	involves: C57BL/6 * C57BL/6N * CBA * FVB/N	MGI:5825268
cn33	Elf5^tm1Sin/Elf5^tm1Sin Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * CBA	MGI:3844571
cn34	Nsun2^tm1c(EUCOMM)Wtsi/Nsun2^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/?	involves: C57BL/6 * CBA	MGI:5310978
cn35	Stk3^tm1Jav/Stk3^tm1Jav Stk4^Gt(AJ0315)Wtsi/Stk4^Gt(AJ0315)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * CBA	MGI:5316469
cn36	Tfam^tm1.1Ncdl/Tfam^tm1.1Ncdl Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * CBA	MGI:5586732
cn37	Elf5^tm1Sin/Elf5^+ Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * CBA	MGI:3844572
cn38	Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis/0 Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * CBA * DBA/2	MGI:7461096
cn39	Del(8Defa1-Def)2Xzd/Del(8Defa1-Def)2Xzd Tg(KRT14-cre)1Amc/0	involves: C57BL/6J * CBA	MGI:7427375
cn40	Mir24-1^em1Smoc/Mir24-1^em1Smoc Mir24-2^em1Smoc/Mir24-2^em1Smoc Tg(KRT14-cre)1Amc/0	involves: C57BL/6J * CBA	MGI:6726110
cn41	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6N * C57BL/6NJ	MGI:7657829
cn42	Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6N * C57BL/6NJ	MGI:7657831
cn43	Kctd1^tm1c(EUCOMM)Wtsi/Kctd1^tm1c(EUCOMM)Wtsi Kctd15^tm1c(EUCOMM)Wtsi/Kctd15^tm1c(EUCOMM)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6N * C57BL/6NJ	MGI:7657832
cn44	Zmynd8^em1Lwb/Zmynd8^em1Lwb Tg(MMTV-PyVT)634Mul/0 Tg(KRT14-cre)1Amc/0	involves: C57BL/6N * CBA * FVB	MGI:7432306
cn45	Mad2l1^tm2Sorg/Mad2l1^tm2Sorg Tg(KRT14-cre)1Amc/?	Not Specified	MGI:5498676

Genotype
MGI:6402593

cn1

• Allelic Composition: Nmi^tm1.1Geno/Nmi^tm1.1Geno; Tg(KRT14-cre)1Amc/0
• Genetic Background: B6.Cg-Nmi^tm1.1Geno Tg(KRT14-cre)1Amc

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

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:261035 )

N • normal lactation

abnormal mammary gland epithelium morphology ( J:261035 )

• more proliferative at lactation day 1

abnormal mammary duct terminal end bud morphology ( J:261035 )

• increased terminal end bud number

mammary gland duct hyperplasia ( J:261035 )

• enhanced ductal extension during pubertal mammary development

mammary gland alveolar hyperplasia ( J:261035 )

• prolific alveologenesis during mid pregnancy at day 14.5 post conception and at lactation day 1

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:261035 )

• 2x increase in lung metastatic nodules in DMBA-induced mammary tumor bearing mice

• invasive fronts of pre-neoplastic mammary lesions create microscopic projections of epithelial cells into surrounding stroma after induction with DMBA

• normal latency to mammary tumor growth after induction with DMBA

• normal mammary tumor growth rate after induction with DMBA

integument

abnormal mammary gland epithelium morphology ( J:261035 )

• more proliferative at lactation day 1

abnormal mammary duct terminal end bud morphology ( J:261035 )

• increased terminal end bud number

mammary gland duct hyperplasia ( J:261035 )

• enhanced ductal extension during pubertal mammary development

mammary gland alveolar hyperplasia ( J:261035 )

• prolific alveologenesis during mid pregnancy at day 14.5 post conception and at lactation day 1

neoplasm

increased incidence of tumors by chemical induction ( J:261035 )

• 2x increase in lung metastatic nodules in DMBA-induced mammary tumor bearing mice

• invasive fronts of pre-neoplastic mammary lesions create microscopic projections of epithelial cells into surrounding stroma after induction with DMBA

• normal latency to mammary tumor growth after induction with DMBA

• normal mammary tumor growth rate after induction with DMBA

increased metastatic potential ( J:261035 )

• 2x increase in lung metastatic nodules in DMBA-induced mammary tumor bearing mice

Genotype
MGI:6163986

cn2

• Allelic Composition: Adamts9^tm1.1Cvrk/Adamts9^tm1.1Cvrk; Tg(KRT14-cre)1Amc/0
• Genetic Background: C3FeJ.Cg-Adamts9^tm1.1Cvrk Tg(KRT14-cre)1Amc

pigmentation

pigmentation phenotype ( J:262498 )

N • mice exhibit normally pigmented tail

Genotype
MGI:6163989

cn3

• Allelic Composition: Adamts9^tm1.1Cvrk/Adamts9^tm1.1Cvrk; Tg(KRT14-cre)1Amc/0; Tg(Mitf-cre)7114Gsb/0
• Genetic Background: C3FeJ.Cg-Adamts9^tm1.1Cvrk Tg(KRT14-cre)1Amc Tg(Mitf-cre)7114Gsb

pigmentation

pigmentation phenotype ( J:262498 )

N • mice exhibit normally pigmented tail

Genotype
MGI:5495972

cn4

• Allelic Composition: Palb2^tm1.1Dli/Palb2^tm1.1Dli; Trp53^tm1Brn/Trp53^tm1Brn; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * CBA

neoplasm

increased mouth tumor incidence ( J:197442 )

• in the oral mucosa

increased mammary gland tumor incidence ( J:197442 )

increased skin tumor incidence ( J:197442 )

abnormal tumor morphology ( J:197442 )

• expanded spectrum of tissues affected by tumors compared to in Trp53^tm1Brn/Trp53^tm1Brn Tg(KRT14-cre)1Amc mice

decreased tumor latency ( J:197442 )

• mice develop mammary tumor faster than Trp53^tm1Brn/Trp53^tm1Brn Tg(KRT14-cre)1Amc mice

integument

increased mammary gland tumor incidence ( J:197442 )

increased skin tumor incidence ( J:197442 )

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:197442 )

craniofacial

increased mouth tumor incidence ( J:197442 )

• in the oral mucosa

growth/size/body

increased mouth tumor incidence ( J:197442 )

• in the oral mucosa

Genotype
MGI:5495973

cn5

• Allelic Composition: Palb2^tm1.1Dli/Palb2^tm1.1Dli; Trp53^tm1Brn/Trp53⁺; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6 * CBA

neoplasm

increased mammary gland tumor incidence ( J:197442 )

decreased tumor latency ( J:197442 )

• mice develop mammary tumor faster than Trp53^tm1Brn/Trp53⁺ Tg(KRT14-cre)1Amc mice

integument

increased mammary gland tumor incidence ( J:197442 )

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:197442 )

Genotype
MGI:4442806

cn6

• Allelic Composition: Pggt1b^tm1Mbrg/Pggt1b^tm1Mbrg; Tg(KRT14-cre)1Amc/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:158528 )

• die within a few hours of birth with little milk in their stomachs

integument

decreased keratinocyte proliferation ( J:158528 )

• epidermal keratinocytes do not proliferate in culture

underdeveloped hair follicles ( J:158528 )

• E19.5 embryos have stunted hair follicles

cellular

decreased keratinocyte proliferation ( J:158528 )

• epidermal keratinocytes do not proliferate in culture

Genotype
MGI:4442842

cn7

• Allelic Composition: Fntb^tm1.1Mbrg/Fntb^tm1.1Mbrg; Tg(KRT14-cre)1Amc/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

growth/size/body

decreased body size ( J:158528 )

• most of the hair shafts are dysmorphic

• all of the layers of the shaft develop but the shafts are smaller and not as straight as in controls

integument

increased hair follicle apoptosis ( J:158528 )

• apoptotic cells are detected in the hair follicle at P1 and are even more numerous at P4, P6 and P8

• scattered apoptotic cells are detected in the interfollicular epidermis at P4, P6 and P8

decreased keratinocyte proliferation ( J:158528 )

• marked proliferation defect in culture cells

alopecia ( J:158528 )

• by P6 alopecia is virtually complete and persists throughout life

abnormal hair shaft morphology ( J:158528 )

underdeveloped hair follicles ( J:158528 )

• hair follicles are stunted in appearance

• hair follicles appear normal at E17.5 but stunting of hair follicles is easily apparent at all post-natal time points

abnormal hair follicle orientation ( J:158528 )

• most of the hair shafts are improperly angled and few penetrated the surface of the skin

decreased hair follicle number ( J:158528 )

• hair follicles have largely disappeared by P120

abnormal keratinocyte morphology ( J:158528 )

• keratinocytes in culture have a flattened morphology

cellular

increased hair follicle apoptosis ( J:158528 )

• apoptotic cells are detected in the hair follicle at P1 and are even more numerous at P4, P6 and P8

• scattered apoptotic cells are detected in the interfollicular epidermis at P4, P6 and P8

decreased keratinocyte proliferation ( J:158528 )

• marked proliferation defect in culture cells

Genotype
MGI:4442843

cn8

• Allelic Composition: Fntb^tm1.1Mbrg/Fntb^tm1.1Mbrg; Pggt1b^tm1Mbrg/Pggt1b^tm1Mbrg; Tg(KRT14-cre)1Amc/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

integument

decreased hair follicle number ( J:158528 )

• at E17.5 embryos have fewer hair follicles

thin epidermis ( J:158528 )

• interfollicular epidermis is slightly thinner compared to either single mutant at E17.5

abnormal skin physiology ( J:158528 )

• at E17.5 more apoptotic cells are present than in either single mutant

Genotype
MGI:6455789

cn9

• Allelic Composition: Cbfb^tm1Itan/Cbfb^tm1Itan; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

craniofacial

abnormal palate development ( J:277246 )

• at E15.0 in some mice contact between primary and secondary palates is seen but mesenchymal confluence is not yet present and in others contact is absent

• at E16.0, contact between primary and secondary palates is absent in all mice

• at E15.0 there is partial contact but no fusion of the epithelium at the boundary between the primary and secondary palates and proliferation is increased and apoptosis decreased in the epithelium

submucous cleft palate ( J:277246 )

• partial submucous cleft with retained epithelial remnants at the anterior-most region of the secondary palate at P0

anterior cleft palate ( J:277246 )

• anterior cleft between the primary and secondary palates at P0 and P50 with the secondary palate failing to make contact with the primary palate and the nasal septum

• anterior cleft is seen in all mice at P0 and increases in size by P50

• in culture treatment with TGFB3 beads or folic acid rescues palatal cleft in many explants

digestive/alimentary system

abnormal palate development ( J:277246 )

• at E15.0 in some mice contact between primary and secondary palates is seen but mesenchymal confluence is not yet present and in others contact is absent

• at E16.0, contact between primary and secondary palates is absent in all mice

• at E15.0 there is partial contact but no fusion of the epithelium at the boundary between the primary and secondary palates and proliferation is increased and apoptosis decreased in the epithelium

submucous cleft palate ( J:277246 )

• partial submucous cleft with retained epithelial remnants at the anterior-most region of the secondary palate at P0

anterior cleft palate ( J:277246 )

• anterior cleft between the primary and secondary palates at P0 and P50 with the secondary palate failing to make contact with the primary palate and the nasal septum

• anterior cleft is seen in all mice at P0 and increases in size by P50

• in culture treatment with TGFB3 beads or folic acid rescues palatal cleft in many explants

growth/size/body

abnormal palate development ( J:277246 )

• at E15.0 in some mice contact between primary and secondary palates is seen but mesenchymal confluence is not yet present and in others contact is absent

• at E16.0, contact between primary and secondary palates is absent in all mice

• at E15.0 there is partial contact but no fusion of the epithelium at the boundary between the primary and secondary palates and proliferation is increased and apoptosis decreased in the epithelium

submucous cleft palate ( J:277246 )

• partial submucous cleft with retained epithelial remnants at the anterior-most region of the secondary palate at P0

anterior cleft palate ( J:277246 )

• anterior cleft between the primary and secondary palates at P0 and P50 with the secondary palate failing to make contact with the primary palate and the nasal septum

• anterior cleft is seen in all mice at P0 and increases in size by P50

• in culture treatment with TGFB3 beads or folic acid rescues palatal cleft in many explants

Genotype
MGI:5316468

cn10

• Allelic Composition: Col1a1^{tm1(tetO-YAP1*)Fcam}/Col1a1⁺; Gt(ROSA)26Sor^{tm1(rtTA,EGFP)Nagy}/Gt(ROSA)26Sor⁺; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * CBA

integument

abnormal hair growth ( J:171057 )

• skin grafts on nude mice treated with doxycycline exhibit stunted hair growth unlike control grafts

abnormal epidermal layer morphology ( J:171057 )

• doxycycline-treated mice exhibit multi-layered epithelium unlike control mice

hyperkeratosis ( J:171057 )

• skin grafts on nude mice treated with doxycycline exhibit hyperkeratosis unlike control grafts

thick epidermis ( J:171057 )

• skin grafts on nude mice treated with doxycycline exhibit hyperkeratosis unlike control grafts

wrinkled skin ( J:171057 )

• 8 days after doxycycline treatment

thick skin ( J:171057 )

• 8 days after doxycycline treatment

abnormal epidermal stem cell morphology ( J:171057 )

• skin from doxycycline-treated mice exhibit a greater than 5-fold increase in the number of colony-forming cells compared with skin from control mice

increased skin squamous cell carcinoma incidence ( J:171057 )

• in nude mice receiving skin grafts and treated with doxycycline

craniofacial

abnormal tongue epithelium morphology ( J:171057 )

• thickened and dysplastic in doxycycline-treated mice

neoplasm

increased skin squamous cell carcinoma incidence ( J:171057 )

• in nude mice receiving skin grafts and treated with doxycycline

cellular

increased cell proliferation ( J:171057 )

• doxycycline-treated mice exhibit increased cell proliferation of basal cells and an extension of the proliferative domain into the suprabasal layers of back skin compared with control mice

digestive/alimentary system

abnormal tongue epithelium morphology ( J:171057 )

• thickened and dysplastic in doxycycline-treated mice

growth/size/body

abnormal tongue epithelium morphology ( J:171057 )

• thickened and dysplastic in doxycycline-treated mice

Genotype
MGI:3584381

cn11

• Allelic Composition: Shh^tm1Amc/Shh^tm2Amc; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:65294 )

• mutant newborns die within a day after birth

craniofacial

abnormal cranium morphology ( J:65294 )

• at birth, mutant pups display flattened skulls

absent alveolar process ( J:65294 )

• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent

abnormal incisor morphology ( J:65294 )

• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla

abnormal lower incisor morphology ( J:65294 )

• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted

small incisors ( J:65294 )

• at birth, incisors are only 5% of normal size

abnormal molar cusp morphology ( J:65294 )

• mandibular molars display a single irregular cusp; additional cusp formation is disrupted

small molars ( J:65294 )

• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla

• maxillary molars are less affected than mandibular molars which are 25% of normal size

• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed

absent enamel cord ( J:65294 )

• the dental cord is absent in mandibular molars

arrest of tooth development ( J:65294 )

• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology

growth retardation of incisors ( J:65294 )

• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars

growth retardation of molars ( J:65294 )

• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors

abnormal dentin morphology ( J:65294 )

• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped

abnormal odontoblast morphology ( J:65294 )

• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture

abnormal enamel morphology ( J:65294 )

• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation

• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped

abnormal ameloblast morphology ( J:65294 )

• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture

• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization

abnormal nasal bone morphology ( J:65294 )

• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced

abnormal palatal shelf fusion at midline ( J:90909 )

• the rudimentary palatal shelves are spaced widely apart

palatal shelf hypoplasia ( J:90909 )

• the palatal shelves fail to develop beyond rudimentary processes

cleft secondary palate ( J:90909 )

• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart

skeleton

skeleton phenotype ( J:65294 )

N • at birth, mutant pups possess normal skeletal elements; the upper and lower jaws are of normal length

abnormal cranium morphology ( J:65294 )

• at birth, mutant pups display flattened skulls

absent alveolar process ( J:65294 )

• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent

abnormal incisor morphology ( J:65294 )

• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla

abnormal lower incisor morphology ( J:65294 )

• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted

small incisors ( J:65294 )

• at birth, incisors are only 5% of normal size

abnormal molar cusp morphology ( J:65294 )

• mandibular molars display a single irregular cusp; additional cusp formation is disrupted

small molars ( J:65294 )

• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla

• maxillary molars are less affected than mandibular molars which are 25% of normal size

• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed

absent enamel cord ( J:65294 )

• the dental cord is absent in mandibular molars

arrest of tooth development ( J:65294 )

• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology

growth retardation of incisors ( J:65294 )

• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars

growth retardation of molars ( J:65294 )

• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors

abnormal dentin morphology ( J:65294 )

• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped

abnormal odontoblast morphology ( J:65294 )

• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture

abnormal enamel morphology ( J:65294 )

• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation

• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped

abnormal ameloblast morphology ( J:65294 )

• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture

• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization

abnormal nasal bone morphology ( J:65294 )

• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced

vision/eye

eyelids open at birth ( J:65294 )

respiratory system

abnormal nasal bone morphology ( J:65294 )

• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:90909 )

• the rudimentary palatal shelves are spaced widely apart

palatal shelf hypoplasia ( J:90909 )

• the palatal shelves fail to develop beyond rudimentary processes

cleft secondary palate ( J:90909 )

• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart

aerophagia ( J:65294 )

• at birth, mutant pups are observed gulping air

integument

absent vibrissae ( J:65294 )

growth/size/body

absent alveolar process ( J:65294 )

• mutant mandibular molars are fused with the oral ectoderm and the alveolar bone is absent

abnormal incisor morphology ( J:65294 )

• at birth, mutant pups display small (only 5% of normal size) and abnormally shaped incisors in both the mandible and maxilla

abnormal lower incisor morphology ( J:65294 )

• mandibular incisors display a single cusp with two symmetrical cervical loops; additional cusp formation is disrupted

small incisors ( J:65294 )

• at birth, incisors are only 5% of normal size

abnormal molar cusp morphology ( J:65294 )

• mandibular molars display a single irregular cusp; additional cusp formation is disrupted

small molars ( J:65294 )

• at birth, mutant pups display small and abnormally shaped first molars in both the mandible and maxilla

• maxillary molars are less affected than mandibular molars which are 25% of normal size

• although cervical loops, dental papilla, inner enamel epithelium, predentin, and stellate reticulum are present, no dental cord is formed

absent enamel cord ( J:65294 )

• the dental cord is absent in mandibular molars

arrest of tooth development ( J:65294 )

• at birth, mutant pups show absence of obvious teeth: manidbular molars and incisors exhibit a cap stage tooth rudiment of abnormal morphology

growth retardation of incisors ( J:65294 )

• at birth, mandibular incisors are more developmentally advanced relative to mandibular molars

growth retardation of molars ( J:65294 )

• at birth, mandibular molars are less developmentally advanced relative to mandibular incisors

abnormal dentin morphology ( J:65294 )

• in grafts of early tooth rudiments (13.5-15.5 dpc), dentin deposits are deposited but crown formation is incomplete and resulting teeth are small and abnormally shaped

abnormal odontoblast morphology ( J:65294 )

• at birth, functional odontoblast layers are present but display abnormal polarity and cellular architecture

abnormal enamel morphology ( J:65294 )

• at 14.5 dpc, the outer enamel epithelium of the lingual side is severely reduced and the lingual inner enamel epithelium has not invaginated, suggesting impaired crown formation

• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel matrix is secreted but crown formation is incomplete and resulting teeth are small and abnormally shaped

abnormal ameloblast morphology ( J:65294 )

• at birth, functional ameloblast layers are present but display abnormal polarity and cellular architecture

• when early tooth rudiments (13.5-15.5 dpc) are transplanted under kidney capsules of nude mice, enamel and dentin matrices are deposited in spite of absent ameloblast elongation and odontoblast disorganization

abnormal nasal bone morphology ( J:65294 )

• at birth, mutant pups display a small frontal nasal process; nasal passageways are severely reduced

abnormal palatal shelf fusion at midline ( J:90909 )

• the rudimentary palatal shelves are spaced widely apart

palatal shelf hypoplasia ( J:90909 )

• the palatal shelves fail to develop beyond rudimentary processes

cleft secondary palate ( J:90909 )

• 85% exhibit a cleft palate with rudimentary palatal shelves spaced widely apart

Genotype
MGI:5009418

cn12

• Allelic Composition: Ilk^tm1Star/Ilk^tm1Star; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:172934 )

• median survival is 4 days

integument

decreased keratinocyte proliferation ( J:172934 )

• in culture

skin edema ( J:172934 )

skin inflammation ( J:172934 )

abnormal hair growth ( J:172934 )

• by P3

abnormal hair follicle development ( J:172934 )

• hair follicles exhibit severe growth retardation compared to in control mice

• no follicles are apparent beyond stage 4 unlike in control mice

decreased hair follicle number ( J:172934 )

• at P4

abnormal hair follicle physiology ( J:172934 )

• hair follicles exhibit decreased cell proliferation compared to in control mice

abnormal epidermal layer morphology ( J:172934 )

• mice exhibit increased intracellular epidermal spaces compared with control mice

acanthosis ( J:172934 )

blistering ( J:172934 )

• mice exhibit microblisters at the junction of the basal layer and the basement membrane on different parts of the body, including dorsal skin, the footpads, and along the forelimbs and hindlimbs, unlike in control mice

• blisters are more common in areas of high friction

scaly skin ( J:172934 )

abnormal skin pigmentation ( J:172934 )

• reduced as early as P1

thin skin ( J:172934 )

decreased skin tensile strength ( J:172934 )

• fragile skin

homeostasis/metabolism

skin edema ( J:172934 )

growth/size/body

postnatal growth retardation ( J:172934 )

• as early as P1

immune system

skin inflammation ( J:172934 )

pigmentation

abnormal skin pigmentation ( J:172934 )

• reduced as early as P1

cellular

decreased keratinocyte proliferation ( J:172934 )

• in culture

Genotype
MGI:6112650

cn13

• Allelic Composition: Slc39a10^tm1.1Tfk/Slc39a10^tm1.1Tfk; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:254216 )

• die within a few days of birth

integument

impaired skin barrier function ( J:254216 )

• particularly in the ventral skin

sparse hair ( J:254216 )

• newborns have thin and feeble hair

decreased hair follicle number ( J:254216 )

• at P1

abnormal epidermal layer morphology ( J:254216 )

• epidermal dysgenesis with dorsal epidermal hypoplasia and ventral embryonic epidermis at P1

abnormal epidermis stratum granulosum morphology ( J:254216 )

• ventral skin lacks a granular layer at P1

thin epidermis stratum granulosum ( J:254216 )

• in the dorsal skin at P1

abnormal epidermis stratum spinosum morphology ( J:254216 )

• ventral skin lacks a spinous layer at P1

thin epidermis ( J:254216 )

• in the dorsal skin the epidermal layer appears atrophic with thinning of the granular layer at P1

reddish skin ( J:254216 )

• newborns have scarlet skin

abnormal skin development ( J:254216 )

• expression analysis indicates a defect in epidermal differentiation

decreased epidermal stem cell number ( J:254216 )

• decrease in the number of Trp63+ epidermal progenitor cells in the hair follicle and interfollicular region at P1

homeostasis/metabolism

impaired skin barrier function ( J:254216 )

• particularly in the ventral skin

Genotype
MGI:4836900

cn14

• Allelic Composition: Tg(KRT14-cre)1Amc/0; Trpv3^tm1.1Clph/Trpv3^tm1.1Clph
• Genetic Background: involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6 * C57BL/6J * CBA * Swiss Webster

immune system

erythroderma ( J:164741 )

integument

erythroderma ( J:164741 )

waved hair ( J:164741 )

• dorsal and ventral coat fur as well as tail hair with 100% penetrance

abnormal hair follicle orientation ( J:164741 )

• gently curved and pointed in different directions with variable angles

curly vibrissae ( J:164741 )

• with 100% penetrance

abnormal epidermis stratum corneum morphology ( J:164741 )

abnormal corneocyte envelope morphology ( J:164741 )

• The density of the cornified cell envelope is only 15-18% of wild-type

dry skin ( J:164741 )

scaly skin ( J:164741 )

Genotype
MGI:5316467

cn15

• Allelic Composition: Yap1^tm1.1Fcam/Yap1^tm2.1Fcam; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:171057 )

integument

abnormal skin morphology ( J:171057 )

• authors state that mice phenocopy Yap1^tm1.1Fcam/Yap1^tm1.1Fcam Tg(KRT14-cre)1Amc mice

abnormal epidermal layer morphology ( J:171057 )

• at E18.5, mice lack epidermal tissue covering the distal part of the limbs, eyes and ears

thin skin ( J:171057 )

• limb skin

cellular

decreased cell proliferation ( J:171057 )

• mice exhibit reduced proliferation of basal cells in limb skin compared with control mice

Genotype
MGI:3832489

cn16

• Allelic Composition: Itga9^tm2Des/Itga9^tm2Des; Tg(KRT14-cre)1Amc/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

vision/eye

vision/eye phenotype ( J:144854 )

N • eye size normal

N • corneal clarity normal

abnormal cornea epithelium morphology ( J:144854 )

• basal cells are shorter than in controls and are wider

decreased cornea epithelium thickness ( J:144854 )

• thinner than controls but with a similar number of layers

decreased cornea thickness ( J:144854 )

• cornea is thinner, 50um as compared to 62um

homeostasis/metabolism

abnormal wound healing ( J:144854 )

• reduced proliferation of keratinocytes at 2 and 4 days after wounding

• migration of epithelial cells into the wound area is normal

Genotype
MGI:3842510

cn17

• Allelic Composition: Dgat1^tm2Far/Dgat1^tm2Far; Tg(KRT14-cre)1Amc/?
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

Cyclical alopecia in Dgat1^tm2Far/Dgat1^tm2Far Tg(KRT14-cre)1Amc/? mice

integument

alopecia ( J:147611 )

• develops as early as 7 weeks of age

Genotype
MGI:5316466

cn18

• Allelic Composition: Yap1^tm1.1Fcam/Yap1^tm1.1Fcam; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

integument

impaired skin barrier function ( J:171057 )

• at E18.5 in limbs, ears, nose, and mouth

abnormal epidermal layer morphology ( J:171057 )

• at E18.5, mice lack epidermal tissue covering the distal part of the limbs, eyes and ears

• disorganized architecture

abnormal epidermis stratum basale morphology ( J:171057 )

• basal cells lose their columnar organization and adopt a flat morphology unlike in control mice

thin epidermis stratum basale ( J:171057 )

• hypoplastic

abnormal epidermis stratum corneum morphology ( J:171057 )

• reduced

thin epidermis ( J:171057 )

abnormal skin condition ( J:171057 )

• fragile at E18.5

thin skin ( J:171057 )

• at E18.5

abnormal epidermal stem cell morphology ( J:171057 )

• mice exhibit a greater than 50-fold decrease in the number of colony-forming cells compared with control mice

cellular

decreased cell proliferation ( J:171057 )

• mice exhibit a greater than 3.5-fold decrease in cell proliferation in limb skin compared with control mice

increased cell proliferation ( J:171057 )

• mice exhibit a more than 3-fold increase in cell proliferation in back skin compared with control mice

homeostasis/metabolism

impaired skin barrier function ( J:171057 )

• at E18.5 in limbs, ears, nose, and mouth

Genotype
MGI:7338978

cn19

• Allelic Composition: Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N * CBA

craniofacial

craniofacial phenotype ( J:323190 )

N • no obvious craniofacial abnormalities

Genotype
MGI:3834096

cn20

• Allelic Composition: Egfr^tm1Dwt/Egfr^tm1Dwt; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * CBA

Wavy coat in Egfr^tm1Dwt/Egfr^tm1Dwt Tg(KRT14-cre)1Amc/0 mice

integument

waved hair ( J:145161 )

Genotype
MGI:3812331

cn21

• Allelic Composition: Dsc3^tm2Pko/Dsc3^tm2Pko; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

cellular

decreased keratinocyte adhesion ( J:140129 )

• keratinocytes exhibit weak cell adhesion with only half-desmosomes forming on the bottom and roof of the blisters

growth/size/body

epidermal cyst ( J:140129 )

• mice exhibit empty cysts in the epidermis following loss of telogen club hairs

mortality/aging

decreased survivor rate ( J:140129 )

• while some mice die shortly after birth, mice that do not exhibit obvious skin lesions develop to adulthood

neonatal lethality, incomplete penetrance ( J:140129 )

• mice that develop macroscopic skin blistering usually die within hours of birth

• however, mice that do not exhibit obvious skin lesions develop to adulthood

integument

integument phenotype ( J:140129 )

N • despite severe blistering, keratinocyte differentiation is normal

decreased keratinocyte adhesion ( J:140129 )

• keratinocytes exhibit weak cell adhesion with only half-desmosomes forming on the bottom and roof of the blisters

epidermal cyst ( J:140129 )

• mice exhibit empty cysts in the epidermis following loss of telogen club hairs

sparse hair ( J:140129 )

• at weaning mice loss the hair on their backs and progressively lose the hair on their heads and tails

• mice specifically lose telogen hairs

• however, hair does grow back

acantholysis ( J:140129 )

• mice exhibit blistering with acantholysis just above the basal cell layer with later stages exhibiting lateral separation of the basal keratinocytes

absent epidermis ( J:140129 )

• in severe cases adult mice exhibit complete loss of the epidermis in large sections

epidermal hyperplasia ( J:140129 )

• adult mice exhibit severe epidermal hyperplasia

blistering ( J:140129 )

• 10% of mice develop blisters within hours of birth

• even careful handling of mice induces blisters on the skin

• however, no blisters are observed on internal stratified epithelia

skin lesions ( J:140129 )

• all adult mice develop severe skin lesions

Genotype
MGI:3834097

cn22

• Allelic Composition: Egfr^tm1Dwt/Egfr^tm1Dwt; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

nervous system

nervous system phenotype ( J:145069 )

N • skin innervation is normal

integument

abnormal hair follicle morphology ( J:145069 )

• hair follicles are disorganized at P7 to P8

Genotype
MGI:5305779

cn23

• Allelic Composition: Gak^tm2Legr/Gak^tm2Legr; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:180119 )

• mice die shortly after birth

integument

impaired skin barrier function ( J:180119 )

• at E17.5

abnormal epidermal layer morphology ( J:180119 )

• the epidermis lacks extensive differentiation and multiple cell layers compared with control mice

• the epidermis exhibits reduced neutral lipids compared with control mice

abnormal epidermis stratum corneum morphology ( J:180119 )

• underdeveloped

wrinkled skin ( J:180119 )

• shortly after birth

homeostasis/metabolism

dehydration ( J:180119 )

• shortly after birth

impaired skin barrier function ( J:180119 )

• at E17.5

Genotype
MGI:5577087

cn24

• Allelic Composition: Atoh1^tm4.1Hzo/Atoh1⁺; Piezo2^tm2.2Apat/Piezo2^tm2.2Apat; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

behavior/neurological

abnormal mechanical nociception ( J:211312 )

• upon mechanical stimulation of Merkel cells, mutant cells do not display mechanically-activated currents but wild-type cells show a robust response

• sustained depolarization seen in wild-type cells upon injection of current is absent in Piezo2-deficient Merkel cells

• in an automated von Frey filament test, mutants show decreased percent withdrawal responses at lower forces only with similar responses at higher forces

nervous system

abnormal nervous system electrophysiology ( J:211312 )

• firing frequencies of slowly adapting ABeta fibers at various frequencies are reduced, and conduction velocities is reduced in ex vivo skin-saphenous nerve ending recordings

• touch dome afferents display short reduced firing compare to wild-type cells; firing patterns are intermediately adapting compared to maintained firing of wild-type touch dome afferents such that spikes fired and overall firing rates are significantly reduced

Genotype
MGI:6402594

cn25

• Allelic Composition: Nmi^tm1.1Geno/Nmi^tm1.1Geno; Tg(KRT14-cre)1Amc/0; Tg(MMTVneu)202Mul/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * CBA * FVB/N

endocrine/exocrine glands

increased mammary adenocarcinoma incidence ( J:261035 )

• shorter latency to tumor formation

• accelerated tumor growth

• higher metastasis incidence

integument

increased mammary adenocarcinoma incidence ( J:261035 )

• shorter latency to tumor formation

• accelerated tumor growth

• higher metastasis incidence

neoplasm

increased mammary adenocarcinoma incidence ( J:261035 )

• shorter latency to tumor formation

• accelerated tumor growth

• higher metastasis incidence

increased metastatic potential ( J:261035 )

• increased pulmonary metastasis by mammary tumors

Genotype
MGI:4820720

cn26

• Allelic Composition: Gt(ROSA)26Sor^tm1(Ntn4)Dyl/Gt(ROSA)26Sor⁺; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

cardiovascular system

abnormal blood vessel morphology ( J:162807 )

• mice exhibit an increase in blood vessel density in the skin compared with wild-type mice

• hair follicles are surrounded by lymphatic or blood vessels unlike in wild-type mice

abnormal skin vasculature morphology ( J:162807 )

• mice exhibit an increase in lymphatic and blood vessel density in the skin compared with wild-type mice

abnormal tumor vascularization ( J:162807 )

• transplanted MCF-7 tumor cells exhibit increased lymphangiogenesis compared to when transplanted into wild-type mice

abnormal cardiovascular system physiology ( J:162807 )

• mice exhibit increased in vitro and in vivo lymphatic permeability associated with disorganized lymphatic cell-cell junctions compared to in wild-type mice

neoplasm

abnormal tumor vascularization ( J:162807 )

• transplanted MCF-7 tumor cells exhibit increased lymphangiogenesis compared to when transplanted into wild-type mice

increased metastatic potential ( J:162807 )

• mice exhibit increased metastasis of transplanted mammary cancer cell (line 66c14) compared with similarly treated wild-type mice

growth/size/body

decreased body size ( J:162807 )

immune system

abnormal lymphatic vessel morphology ( J:162807 )

• mice exhibit increased in vitro and in vivo lymphatic permeability associated with disorganized lymphatic cell-cell junctions compared to in wild-type mice

abnormal lymphangiogenesis ( J:162807 )

• mice transplanted with human breast carcinoma MCF-7 cells exhibit increased lymphangiogenesis compared with similarly treated wild-type mice

lymphatic vessel hyperplasia ( J:162807 )

• mice exhibit an increase in lymphatic vessel density in the skin compared with wild-type mice

• hair follicles are surrounded by lymphatic or blood vessels unlike in wild-type mice

integument

abnormal skin vasculature morphology ( J:162807 )

• mice exhibit an increase in lymphatic and blood vessel density in the skin compared with wild-type mice

abnormal coat appearance ( J:162807 )

• poorly developed

abnormal hair follicle morphology ( J:162807 )

• hair follicles are surrounded by lymphatic or blood vessels unlike in wild-type mice

reddish skin ( J:162807 )

Genotype
MGI:2651648

cn27

• Allelic Composition: Smo^tm1Amc/Smo^tm2Amc; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CBA

mortality/aging

neonatal lethality, complete penetrance ( J:80081 )

• pups die within 1 day after birth

craniofacial

abnormal incisor morphology ( J:80081 )

• incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium

• incisors show an absence of the papillary layer

abnormal molar morphology ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

• dental cord is virtually absent

• the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

• the outer dental epithelium forms a continuous layer without the gaps seen in controls

abnormal molar cusp morphology ( J:80081 )

• cusps of first molars are shallow, broad, underdeveloped and misshapen

fused molars ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

abnormal ameloblast morphology ( J:80081 )

• exhibit abnonormally short ameloblasts in the most advanced cusps of first molar region that are overlaid by a scarce, squamous stratum intermedium

• in incisors, the cuboidal ameloblasts are only 15% of the apical-basal height and contain centrally located round nuclei

• mitochondria, RER, and Golgi are sparse and evenly distributed in the cytoplasm of incisor ameloblasts and Tomes' processes and the terminal webs do not develop

• amelolasts exhibit premature withdrawal from the cell cylce

absent Tomes' process ( J:80081 )

• Tomes' processes do not develop

abnormal enamel organ morphology ( J:80081 )

• the epithelial enamel organ appears disorganized at the late bell stage in the principal cusps of the first molars

abnormal stellate reticulum morphology ( J:80081 )

• in molars, the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal inner dental epithelium morphology ( J:80081 )

• incisors exhibit abnormal folding of the inner dental epithelium

abnormal outer dental epithelium morphology ( J:80081 )

• in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

absent enamel cord ( J:80081 )

• molars develop close to the oral surface, indicating virtual absence of a dental cord

growth/size/body

abnormal incisor morphology ( J:80081 )

• incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium

• incisors show an absence of the papillary layer

abnormal molar morphology ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

• dental cord is virtually absent

• the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

• the outer dental epithelium forms a continuous layer without the gaps seen in controls

abnormal molar cusp morphology ( J:80081 )

• cusps of first molars are shallow, broad, underdeveloped and misshapen

fused molars ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

abnormal ameloblast morphology ( J:80081 )

• exhibit abnonormally short ameloblasts in the most advanced cusps of first molar region that are overlaid by a scarce, squamous stratum intermedium

• in incisors, the cuboidal ameloblasts are only 15% of the apical-basal height and contain centrally located round nuclei

• mitochondria, RER, and Golgi are sparse and evenly distributed in the cytoplasm of incisor ameloblasts and Tomes' processes and the terminal webs do not develop

• amelolasts exhibit premature withdrawal from the cell cylce

absent Tomes' process ( J:80081 )

• Tomes' processes do not develop

abnormal enamel organ morphology ( J:80081 )

• the epithelial enamel organ appears disorganized at the late bell stage in the principal cusps of the first molars

abnormal stellate reticulum morphology ( J:80081 )

• in molars, the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal inner dental epithelium morphology ( J:80081 )

• incisors exhibit abnormal folding of the inner dental epithelium

abnormal outer dental epithelium morphology ( J:80081 )

• in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

absent enamel cord ( J:80081 )

• molars develop close to the oral surface, indicating virtual absence of a dental cord

skeleton

abnormal incisor morphology ( J:80081 )

• incisors are smaller in diameter and exhibit abnormal folding of the inner dental epithelium

• incisors show an absence of the papillary layer

abnormal molar morphology ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

• dental cord is virtually absent

• the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

• the outer dental epithelium forms a continuous layer without the gaps seen in controls

abnormal molar cusp morphology ( J:80081 )

• cusps of first molars are shallow, broad, underdeveloped and misshapen

fused molars ( J:80081 )

• first and second molars of both the maxilla and mandible are abnormally fused, forming a single gigantic anlage

abnormal ameloblast morphology ( J:80081 )

• exhibit abnonormally short ameloblasts in the most advanced cusps of first molar region that are overlaid by a scarce, squamous stratum intermedium

• in incisors, the cuboidal ameloblasts are only 15% of the apical-basal height and contain centrally located round nuclei

• mitochondria, RER, and Golgi are sparse and evenly distributed in the cytoplasm of incisor ameloblasts and Tomes' processes and the terminal webs do not develop

• amelolasts exhibit premature withdrawal from the cell cylce

absent Tomes' process ( J:80081 )

• Tomes' processes do not develop

abnormal enamel organ morphology ( J:80081 )

• the epithelial enamel organ appears disorganized at the late bell stage in the principal cusps of the first molars

abnormal stellate reticulum morphology ( J:80081 )

• in molars, the stellate reticulum is hypocellular and shows absence of early vascular loops in the coronal aspect

abnormal inner dental epithelium morphology ( J:80081 )

• incisors exhibit abnormal folding of the inner dental epithelium

abnormal outer dental epithelium morphology ( J:80081 )

• in molars, the outer dental epithelium forms a continuous layer without the gaps observed in controls

absent enamel cord ( J:80081 )

• molars develop close to the oral surface, indicating virtual absence of a dental cord

Genotype
MGI:6358368

cn28

• Allelic Composition: Mir31^tm1.1Smoc/Mir31^tm1.1Smoc; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA

endocrine/exocrine glands

abnormal mammary gland development ( J:271420 )

♀ • mice exhibit a smaller population of CD24+CD29^high mammary stem cells

abnormal mammary gland alveolus morphology ( J:271420 )

♀ • mice exhibit precocious alveolar differentiation at 10 weeks of age

integument

abnormal mammary gland development ( J:271420 )

♀ • mice exhibit a smaller population of CD24+CD29^high mammary stem cells

abnormal mammary gland alveolus morphology ( J:271420 )

♀ • mice exhibit precocious alveolar differentiation at 10 weeks of age

Genotype
MGI:5547367

cn29

• Allelic Composition: Plcd1^tm1.1Kfu/Plcd1^tm1.1Kfu; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * C57BL/6JJcl * CBA

immune system

increased granulocyte number ( J:205633 )

decreased B cell number ( J:205633 )

• in the bone marrow

increased NK T cell number ( J:205633 )

• 1.7-fold in CD3+ T cells

increased circulating interleukin-17 level ( J:205633 )

enlarged inguinal lymph nodes ( J:205633 )

• with increased cell number

increased susceptibility to type IV hypersensitivity reaction ( J:205633 )

• more prominent ear swelling with exaggerated edema and severe inflammatory cell infiltration

• however, IL17 neutralization abrogates exaggerated swelling

increased interleukin-17 secretion ( J:205633 )

• 6-times increase in IL17+ cells in the inguinal lymph nodes

homeostasis/metabolism

increased circulating interleukin-17 level ( J:205633 )

hematopoietic system

decreased erythrocyte cell number ( J:205633 )

• in the bone marrow

increased granulocyte number ( J:205633 )

decreased B cell number ( J:205633 )

• in the bone marrow

increased NK T cell number ( J:205633 )

• 1.7-fold in CD3+ T cells

Genotype
MGI:7767823

cn30

• Allelic Composition: Osbpl3^{tm1c(EUCOMM)Wtsi}/Osbpl3^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA

neoplasm

neoplasm ( J:341532 )

N • untreated mice do not develop tumors over a period of 2 years

increased incidence of tumors by chemical induction ( J:341532 )

• mice show a 5-fold increase in the incidence of N-butyl-N-(4-hydroxybutyl) nitrosamine (BBN)-induced invasive bladder carcinomas relative to BBN-treated control mice (38.9% versus 7.7%, respectively)

abnormal tumor pathology ( J:341532 )

• after BBN treatment, only 5.5% of bladder tissue is normal versus 38.4% in BBN-treated control mice

• however, the incidence of carcinoma in situ is not significantly changed after BBN treatment (33.3% versus 30.8% in control mice), suggesting that Osbpl3 impairs the progression of tumors towards invasive carcinoma

decreased tumor latency ( J:341532 )

• BBN-treated mice typically develop invasive bladder carcinomas earlier than BBN-treated control mice

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:341532 )

• mice show a 5-fold increase in the incidence of N-butyl-N-(4-hydroxybutyl) nitrosamine (BBN)-induced invasive bladder carcinomas relative to BBN-treated control mice (38.9% versus 7.7%, respectively)

Genotype
MGI:6295452

cn31

• Allelic Composition: Wasl^tm1.1Ttha/Wasl^tm1.1Ttha; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA

growth/size/body

decreased body weight ( J:271857 )

postnatal growth retardation ( J:271857 )

• stunted growth

mortality/aging

premature death ( J:271857 )

• 10% of mice develop severe atopic dermatitis-like skin and die before 30 days of age

integument

increased keratinocyte proliferation ( J:271857 )

impaired skin barrier function ( J:271857 )

• increase in transepidermal water loss at P15, P23, P30, P60, and P120, with transepidermal water loss 2-fold higher at P15 and 6-8 fold higher at P120

• keratinocytes show reduced expression and localization of tight junction proteins but not adherens junction proteins

skin inflammation ( J:271857 )

• mice develop spontaneous inflammation in the neck and face at 10 weeks after birth, with extensive infiltration of immune cells including mast cells, eosinophils, lymphocytes, monocytes, and neutrophils in skin

dermatitis ( J:271857 )

• 10% of mice develop severe atopic dermatitis-like skin

alopecia ( J:271857 )

epidermal hyperplasia ( J:271857 )

• increase in keratinocyte proliferation resulting in epidermal hyperplasia

• however, hyperproliferation response of epidermis to epidermal stress chemical TPA is similar to controls

thick epidermis ( J:271857 )

abnormal skin appearance ( J:271857 )

• nevi are seen at P180

dry skin ( J:271857 )

scaly skin ( J:271857 )

wrinkled skin ( J:271857 )

cellular

increased keratinocyte proliferation ( J:271857 )

digestive/alimentary system

abnormal esophagus morphology ( J:271857 )

• esophagus exhibits an abnormal mucosa

dilated esophagus ( J:271857 )

• esophagus exhibits a wide lumen size

homeostasis/metabolism

abnormal circulating chemokine level ( J:271857 )

• chemokines such as granulocyte-colony stimulating factor, keratinocyte chemoattractant and eotaxin are increased in the serum

increased circulating interleukin-1 alpha level ( J:271857 )

increased circulating interleukin-17 level ( J:271857 )

increased circulating interleukin-6 level ( J:271857 )

increased circulating tumor necrosis factor level ( J:271857 )

impaired skin barrier function ( J:271857 )

• increase in transepidermal water loss at P15, P23, P30, P60, and P120, with transepidermal water loss 2-fold higher at P15 and 6-8 fold higher at P120

• keratinocytes show reduced expression and localization of tight junction proteins but not adherens junction proteins

immune system

abnormal circulating chemokine level ( J:271857 )

• chemokines such as granulocyte-colony stimulating factor, keratinocyte chemoattractant and eotaxin are increased in the serum

increased circulating interleukin-1 alpha level ( J:271857 )

increased circulating interleukin-17 level ( J:271857 )

increased circulating interleukin-6 level ( J:271857 )

increased circulating tumor necrosis factor level ( J:271857 )

skin inflammation ( J:271857 )

• mice develop spontaneous inflammation in the neck and face at 10 weeks after birth, with extensive infiltration of immune cells including mast cells, eosinophils, lymphocytes, monocytes, and neutrophils in skin

dermatitis ( J:271857 )

• 10% of mice develop severe atopic dermatitis-like skin

increased susceptibility to bacterial infection ( J:271857 )

• mice exhibit increased colonization by S. aureus bacteria, showing an increase in the number of bacterial colonies from skin swab compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atopic dermatitis		DOID:3310	OMIM:603165 OMIM:PS603165	J:271857

Genotype
MGI:5825268

cn32

• Allelic Composition: Ddr2^{tm1c(EUCOMM)Wtsi}/Ddr2^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0; Tg(MMTV-PyVT)634Mul/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * FVB/N

neoplasm

increased mammary gland tumor incidence ( J:236031 )

• mice show a similar primary mammary gland tumor growth and tumor burden as single Tg(MMTV-PyVT)634Mul/0 mice and similar levels of fibrillar collagen in tumors

decreased metastatic potential ( J:236031 )

• mice show a reduction in the number of lung metastasis compared to single Tg(MMTV-PyVT)634Mul/0 mice

• in collagen I gels, a reduction in the number of invasive tumor organoids is seen

• however, in matrigel, tumor organoids show similar organoid budding and branching as single Tg(MMTV-PyVT)634Mul tumor organoids

integument

increased mammary gland tumor incidence ( J:236031 )

• mice show a similar primary mammary gland tumor growth and tumor burden as single Tg(MMTV-PyVT)634Mul/0 mice and similar levels of fibrillar collagen in tumors

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:236031 )

• mice show a similar primary mammary gland tumor growth and tumor burden as single Tg(MMTV-PyVT)634Mul/0 mice and similar levels of fibrillar collagen in tumors

Genotype
MGI:3844571

cn33

• Allelic Composition: Elf5^tm1Sin/Elf5^tm1Sin; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

mortality/aging ( J:148362 )

N • unlike homozygous mice carrying Tg(MMTV-cre)4Mam , viability of mutants is similar to controls

reproductive system

abnormal mammary gland growth during pregnancy ( J:148362 )

♀ • at parturition no lobuloalveolar like structures are present and mammary tissue is still composed primarily of adipocytes

♀ • at parturition even after multiple pregnancies the majority of the epithelial architecture displays closed lumens

♀ • at parturition mammary epithelial cells retain characteristics of virgin ductal epithelial cells

♀ • mammary epithelial cells fail to proliferate and fail to undergo functional differentiation

endocrine/exocrine glands

abnormal mammary gland growth during pregnancy ( J:148362 )

♀ • at parturition no lobuloalveolar like structures are present and mammary tissue is still composed primarily of adipocytes

♀ • at parturition even after multiple pregnancies the majority of the epithelial architecture displays closed lumens

♀ • at parturition mammary epithelial cells retain characteristics of virgin ductal epithelial cells

♀ • mammary epithelial cells fail to proliferate and fail to undergo functional differentiation

lactation failure ( J:148362 )

♀ • unable to lactate even after multiple pregnancies

integument

integument phenotype ( J:148362 )

N • despite recombination in the skin, no gross skin abnormalities are detected

abnormal mammary gland growth during pregnancy ( J:148362 )

♀ • at parturition no lobuloalveolar like structures are present and mammary tissue is still composed primarily of adipocytes

♀ • at parturition even after multiple pregnancies the majority of the epithelial architecture displays closed lumens

♀ • at parturition mammary epithelial cells retain characteristics of virgin ductal epithelial cells

♀ • mammary epithelial cells fail to proliferate and fail to undergo functional differentiation

lactation failure ( J:148362 )

♀ • unable to lactate even after multiple pregnancies

Genotype
MGI:5310978

cn34

• Allelic Composition: Nsun2^{tm1c(EUCOMM)Wtsi}/Nsun2^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/?
• Genetic Background: involves: C57BL/6 * CBA

integument

abnormal hair cycle anagen phase ( J:179810 )

• delayed entry of hair follicles into first and second synchronized hair cycle

Genotype
MGI:5316469

cn35

• Allelic Composition: Stk3^tm1Jav/Stk3^tm1Jav; Stk4^{Gt(AJ0315)Wtsi}/Stk4^{Gt(AJ0315)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA

integument

integument phenotype ( J:171057 )

N • mice exhibit normal epidermal development

Genotype
MGI:5586732

cn36

• Allelic Composition: Tfam^tm1.1Ncdl/Tfam^tm1.1Ncdl; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA

mortality/aging

premature death ( J:213840 )

• median survival is 13 days most likely the result of an epidermal barrier defect

cellular

abnormal keratinocyte differentiation ( J:213840 )

• primary keratinocytes exhibit reduced differentiation

increased keratinocyte proliferation ( J:213840 )

• cell proliferation within the basal keratinocyte layer of the epidermis is increased as compared to skin from controls

abnormal mitochondrial physiology ( J:213840 )

• keratinocytes do not generate mitochondria-derived reactive oxygen species (ROS)

• oxygen consumption is reduced in primary keratinocytes

• primary keratinocytes display reduced amounts of cellular superoxide and H₂O₂

• oxidative metabolism of glucose is reduced in primary keratinocytes as compared to controls

abnormal redox activity ( J:213840 )

endocrine/exocrine glands

absent sebaceous gland ( J:213840 )

• epidermis lacks mature sebaceous glands

growth/size/body

slow postnatal weight gain ( J:213840 )

• mice stop gaining weight in comparison to controls

integument

decreased subcutaneous adipose tissue amount ( J:213840 )

• subcutaneous fat is reduced although epidermis appears normal

abnormal keratinocyte differentiation ( J:213840 )

• primary keratinocytes exhibit reduced differentiation

absent sebaceous gland ( J:213840 )

• epidermis lacks mature sebaceous glands

progressive hair loss ( J:213840 )

• mice lack hair by P3

decreased hair follicle number ( J:213840 )

• progressive loss of hair follicles, such that mice lack hair by P3

abnormal hair cycle catagen phase ( J:213840 )

• hair follicles from P6 mice prematurely enter catagen

thick epidermis ( J:213840 )

• increased epidermal thickness by P9

abnormal keratinocyte physiology ( J:213840 )

increased keratinocyte proliferation ( J:213840 )

• cell proliferation within the basal keratinocyte layer of the epidermis is increased as compared to skin from controls

adipose tissue

decreased subcutaneous adipose tissue amount ( J:213840 )

• subcutaneous fat is reduced although epidermis appears normal

Genotype
MGI:3844572

cn37

• Allelic Composition: Elf5^tm1Sin/Elf5⁺; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA

reproductive system

abnormal mammary gland growth during pregnancy ( J:148362 )

♀ • at parturition only a low density of lobuloalveolar like structures are seen and only a few of these display features of secretory differentiation in the lumina instead most lumina are filled with condensed secretory materials

♀ • the presence of condensed secretory materials suggests that mammary epithelial cells fail to undergo terminal differentiation

♀ • after multiple pregnancies lobuloalveolar development is partially restored

endocrine/exocrine glands

abnormal mammary gland growth during pregnancy ( J:148362 )

♀ • at parturition only a low density of lobuloalveolar like structures are seen and only a few of these display features of secretory differentiation in the lumina instead most lumina are filled with condensed secretory materials

♀ • the presence of condensed secretory materials suggests that mammary epithelial cells fail to undergo terminal differentiation

♀ • after multiple pregnancies lobuloalveolar development is partially restored

abnormal lactation ( J:148362 )

♀ • unable to lactate after the first pregnancy

♀ • females are often able to lactate after multiple pregnancies

integument

abnormal mammary gland growth during pregnancy ( J:148362 )

♀ • at parturition only a low density of lobuloalveolar like structures are seen and only a few of these display features of secretory differentiation in the lumina instead most lumina are filled with condensed secretory materials

♀ • the presence of condensed secretory materials suggests that mammary epithelial cells fail to undergo terminal differentiation

♀ • after multiple pregnancies lobuloalveolar development is partially restored

abnormal lactation ( J:148362 )

♀ • unable to lactate after the first pregnancy

♀ • females are often able to lactate after multiple pregnancies

Genotype
MGI:7461096

cn38

• Allelic Composition: Tg(CAG-LacZ,-ACVR1*,-EGFP)35-1Mis/0; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * CBA * DBA/2

mortality/aging

neonatal lethality, complete penetrance ( J:233662 )

• all newborn pups die within 24 h of birth

behavior/neurological

absent gastric milk in neonates ( J:233662 )

• all newborn pups lack milk in their stomachs

craniofacial

abnormal primary and secondary palatal fusion ( J:233662 )

• the primary palate fails to fuse with the secondary palate

abnormal secondary palate development ( J:233662 )

• at E18.5, palatal shelves of the anterior secondary palate fail to fuse with each other and with the nasal septum

• in the middle part of the secondary palate, the fusion of mesenchymal tissue is impaired by the presence of an epithelial seam

• an epithelial cyst-like tissue is detected intermittently at the midline of hard palate and soft palate

persistence of medial edge epithelium during palatal shelf fusion ( J:233662 )

• although medial edge epithelium (MEE) seam formation is normal at E14.5, the MEE seam is not degraded at E15.5, unlike in control embryos

• TUNEL assays showed a significant reduction of apoptotic cells in MEE at E14.5; also, the expression level of cleaved caspase-3 is significantly reduced in MEE cells at E14.5

• downregulation of cell death is accompanied with upregulation of deltaNp63 in MEE at E14.5

• Ki67 staining showed a slight but significant increase of proliferating cells in MEE at E14.5 with continued ability of MEE cells to proliferate at E15.5

abnormal secondary palate morphology ( J:233662 )

• a white strip is found in the midline of the secondary palate including the soft palate

• however, cleft soft palate is not observed

abnormal hard palate morphology ( J:233662 )

• at E18.5, fusion of palatal mesenchyme in the hard palate is hampered by epithelial tissue

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

submucous cleft palate ( J:233662 )

• mice develop submucous cleft palate (SMCP) without cleft soft palate

• SMCP is caused by abnormal medial edge epithelium persistence

digestive/alimentary system

abnormal primary and secondary palatal fusion ( J:233662 )

• the primary palate fails to fuse with the secondary palate

abnormal secondary palate development ( J:233662 )

• at E18.5, palatal shelves of the anterior secondary palate fail to fuse with each other and with the nasal septum

• in the middle part of the secondary palate, the fusion of mesenchymal tissue is impaired by the presence of an epithelial seam

• an epithelial cyst-like tissue is detected intermittently at the midline of hard palate and soft palate

persistence of medial edge epithelium during palatal shelf fusion ( J:233662 )

• although medial edge epithelium (MEE) seam formation is normal at E14.5, the MEE seam is not degraded at E15.5, unlike in control embryos

• TUNEL assays showed a significant reduction of apoptotic cells in MEE at E14.5; also, the expression level of cleaved caspase-3 is significantly reduced in MEE cells at E14.5

• downregulation of cell death is accompanied with upregulation of deltaNp63 in MEE at E14.5

• Ki67 staining showed a slight but significant increase of proliferating cells in MEE at E14.5 with continued ability of MEE cells to proliferate at E15.5

abnormal secondary palate morphology ( J:233662 )

• a white strip is found in the midline of the secondary palate including the soft palate

• however, cleft soft palate is not observed

abnormal hard palate morphology ( J:233662 )

• at E18.5, fusion of palatal mesenchyme in the hard palate is hampered by epithelial tissue

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

submucous cleft palate ( J:233662 )

• mice develop submucous cleft palate (SMCP) without cleft soft palate

• SMCP is caused by abnormal medial edge epithelium persistence

growth/size/body

abnormal primary and secondary palatal fusion ( J:233662 )

• the primary palate fails to fuse with the secondary palate

abnormal secondary palate development ( J:233662 )

• at E18.5, palatal shelves of the anterior secondary palate fail to fuse with each other and with the nasal septum

• in the middle part of the secondary palate, the fusion of mesenchymal tissue is impaired by the presence of an epithelial seam

• an epithelial cyst-like tissue is detected intermittently at the midline of hard palate and soft palate

persistence of medial edge epithelium during palatal shelf fusion ( J:233662 )

• although medial edge epithelium (MEE) seam formation is normal at E14.5, the MEE seam is not degraded at E15.5, unlike in control embryos

• TUNEL assays showed a significant reduction of apoptotic cells in MEE at E14.5; also, the expression level of cleaved caspase-3 is significantly reduced in MEE cells at E14.5

• downregulation of cell death is accompanied with upregulation of deltaNp63 in MEE at E14.5

• Ki67 staining showed a slight but significant increase of proliferating cells in MEE at E14.5 with continued ability of MEE cells to proliferate at E15.5

abnormal secondary palate morphology ( J:233662 )

• a white strip is found in the midline of the secondary palate including the soft palate

• however, cleft soft palate is not observed

abnormal hard palate morphology ( J:233662 )

• at E18.5, fusion of palatal mesenchyme in the hard palate is hampered by epithelial tissue

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

submucous cleft palate ( J:233662 )

• mice develop submucous cleft palate (SMCP) without cleft soft palate

• SMCP is caused by abnormal medial edge epithelium persistence

muscle

abnormal soft palate muscle morphology ( J:233662 )

• at E18.5, fusion of muscle fibers in the soft palate is hampered by epithelial tissue

abnormal tensor veli palatini muscle morphology ( J:233662 )

• at E18.5, an epithelial cyst-like tissue prevents the fusion of the tensor veli palatini muscle in the soft palate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleft palate		DOID:674		J:233662

Genotype
MGI:7427375

cn39

• Allelic Composition: Del(8Defa1-Def)2Xzd/Del(8Defa1-Def)2Xzd; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6J * CBA

immune system

increased susceptibility to bacterial infection ( J:332494 )

• mice exposed to S. aureus exhibit higher bacterial load in a greater area compared with control mice

• however, injection of human BD3 restores normal response to S. aureus infection

integument

abnormal skin morphology ( J:332494 )

• mice exhibit dysbiosis, reduced microbiome diversity, and enrichment of Staphylococcus in the skin compared with control mice

Genotype
MGI:6726110

cn40

• Allelic Composition: Mir24-1^em1Smoc/Mir24-1^em1Smoc; Mir24-2^em1Smoc/Mir24-2^em1Smoc; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6J * CBA

integument

integument phenotype ( J:306624 )

N • skin appears normal

increased keratinocyte proliferation ( J:306624 )

• in the interfollicular epidermis at P4, but not P20

• in vitro proliferation of primary keratinocytes at lower levels of minoxidil

• however, ectopic expression restores normal sensitivity

abnormal hair growth ( J:306624 )

• quicker recovery following shaving likely due to premature hair germ activation

• increased hair growth in response to 4.5 mm and 5.5 mm diameter hairs being plucked or low levels of minoxidil

• however, treatment with Plk3 shRNA or GW843682X, a Plk3 suppressor, restores sensitivity to minoxidil

cellular

increased keratinocyte proliferation ( J:306624 )

• in the interfollicular epidermis at P4, but not P20

• in vitro proliferation of primary keratinocytes at lower levels of minoxidil

• however, ectopic expression restores normal sensitivity

Genotype
MGI:7657829

cn41

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * C57BL/6NJ

integument

integument phenotype ( J:344153 )

N • mice do not exhibit an apparent skin or hair phenotype

Genotype
MGI:7657831

cn42

• Allelic Composition: Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * C57BL/6NJ
• Cell Lines: EPD0177_1_E09

integument

integument phenotype ( J:344153 )

N • mice do not exhibit an apparent skin or hair phenotype

Genotype
MGI:7657832

cn43

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * C57BL/6NJ
• Cell Lines: EPD0177_1_E09

growth/size/body

decreased body size ( J:344153 )

• mice are significantly smaller than controls at P7

postnatal growth retardation ( J:344153 )

• mice are born with normal body weight but develop a postnatal growth retardation

integument

small sebaceous gland ( J:344153 )

• tail skin shows markedly reduced sebaceous glands by 8 months of age

• adult footpad skin shows diminished sebaceous glands

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

anhidrosis ( J:344153 )

• mice exhibit anhidrosis

abnormal coat/ hair morphology ( J:344153 )

• mice show structural hair abnormalities

delayed hair appearance ( J:344153 )

• mice exhibit a delay in hair growth at P7

sparse hair ( J:344153 )

• at P21, mice have a sparser fur coat and patches with reduced hair on the upper back

• adult mice show a generalized sparseness of the fur coat by 8 months of age

• however, no aplasia cutis congenita (ACC)-like lesions are observed

abnormal hair shaft morphology ( J:344153 )

• at 3 weeks of age, back skin shows structural hair shaft abnormalities

• at 8 months of age, tail skin shows abnormal hairs

abnormal hair follicle morphology ( J:344153 )

• at P4, skin shows abnormal and shorter hair follicles

• at 3 weeks of age, tail skin shows hair follicles with flattened scale/interscale junctions

small hair follicles ( J:344153 )

• at P4, skin shows shorter hair follicles

abnormal vibrissa follicle morphology ( J:344153 )

• mice show abnormal whisker hair follicles

curly vibrissae ( J:344153 )

• at P4 and P13, mice exhibit curly whiskers

thin skin ( J:344153 )

• at P4, skin thickness is significantly reduced relative to controls

abnormal skin development ( J:344153 )

• mice exhibit a delay in skin maturation

limbs/digits/tail

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

interdigital webbing ( J:344153 )

• at P4, mice exhibit a delay in interdigital web space formation

vision/eye

delayed eyelid opening ( J:344153 )

• at P13, mice exhibit a delay in eyelid opening

endocrine/exocrine glands

small sebaceous gland ( J:344153 )

• tail skin shows markedly reduced sebaceous glands by 8 months of age

• adult footpad skin shows diminished sebaceous glands

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

anhidrosis ( J:344153 )

• mice exhibit anhidrosis

craniofacial

craniofacial phenotype ( J:344153 )

N • mice exhibit normal incisor formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scalp-ear-nipple syndrome		DOID:0111550	OMIM:181270	J:344153

Genotype
MGI:7432306

cn44

• Allelic Composition: Zmynd8^em1Lwb/Zmynd8^em1Lwb; Tg(MMTV-PyVT)634Mul/0; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * CBA * FVB

endocrine/exocrine glands

decreased mammary gland tumor incidence ( J:326848 )

• strongly reduced mammary tumor number and weight with no metastasis to the lungs unlike in control mice

integument

decreased mammary gland tumor incidence ( J:326848 )

• strongly reduced mammary tumor number and weight with no metastasis to the lungs unlike in control mice

neoplasm

decreased mammary gland tumor incidence ( J:326848 )

• strongly reduced mammary tumor number and weight with no metastasis to the lungs unlike in control mice

Genotype
MGI:5498676

cn45

• Allelic Composition: Mad2l1^tm2Sorg/Mad2l1^tm2Sorg; Tg(KRT14-cre)1Amc/?
• Genetic Background: Not Specified

mortality/aging

postnatal lethality, incomplete penetrance ( J:194539 )

• 80% die within one month of birth and remainder survive into adulthood

integument

hairless ( J:194539 )

abnormal hair follicle morphology ( J:194539 )

• hair follicles are abnormal at all stages

abnormal hair follicle bulge morphology ( J:194539 )

• bulge compartment of hair follicles depleted of cells

abnormal hair follicle physiology ( J:194539 )

• increased basal layer proliferation

abnormal epidermal layer morphology ( J:194539 )

hyperkeratosis ( J:194539 )

• during the first 3 weeks but becoming relatively normal later

abnormal skin physiology ( J:194539 )

• increased basal layer proliferation

cellular

aneuploidy ( J:194539 )

• increased numbers of chromosomes in epidermal cells