Phenotypes associated with this allele

• Allele Symbol: E4f1^tm1.1Llca
• Allele Name: targeted mutation 1.1, Laurent Le Cam
• Allele ID: MGI:4867860
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	E4f1^tm1Pisc/E4f1^tm1.1Llca Tg(KRT5-cre)5132Jlj/0	involves: 129S4/SvJae * C57BL/6 * DBA/2J	MGI:4867862
cn2	E4f1^tm1Pisc/E4f1^tm1.1Llca Polr2a^tm1(cre/ERT2)Bbd/Polr2a^+	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:4867861
cn3	Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp E4f1^tm1Pisc/E4f1^tm1.1Llca Polr2a^tm1(cre/ERT2)Bbd/Polr2a^+	involves: 129/Sv * 129S4/SvJae * C57BL/6 * SJL	MGI:4867863

Genotype
MGI:4867862

cn1

• Allelic Composition: E4f1^tm1Pisc/E4f1^tm1.1Llca; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * DBA/2J

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

mortality/aging

postnatal lethality, complete penetrance ( J:167157 )

• at P3 - P4

homeostasis/metabolism

dehydration ( J:167157 )

• die exhibiting signs of acute dehydration

integument

absent hair follicles ( J:167157 )

• in skin grafted onto nude mice

abnormal epidermal layer morphology ( J:167157 )

• epidermal hypocellularity develops in skin grafted onto nude mice

• fewer epidermal stem cells are present

hyperkeratosis ( J:167157 )

• develops in skin grafted onto nude mice

absent epidermis stratum granulosum ( J:167157 )

absent suprabasal layer ( J:167157 )

epidermal hyperplasia ( J:167157 )

• develops by P3 - P4

• no abnormal cell death is seen in these lesions

abnormal skin physiology ( J:167157 )

• hyperproliferation and increased mitotic index in epidermal basal cells

abnormal keratinocyte physiology ( J:167157 )

• after 10 - 15 days in culture keratinocytes fail to develop typical holoclones (corresponding to long term clonal outgrowth of epidermal stem cells)

Genotype
MGI:4867861

cn2

• Allelic Composition: E4f1^tm1Pisc/E4f1^tm1.1Llca; Polr2a^{tm1(cre/ERT2)Bbd}/Polr2a⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

homeostasis/metabolism

impaired wound healing ( J:167157 )

• after topical application of 4-hydroxytamoxifen

integument

alopecia ( J:167157 )

• topical application of 4-hydroxytamoxifen to the unshaved tail results in complete alopecia by 6 weeks after application

abnormal hair follicle bulge morphology ( J:167157 )

• fewer hair follicle bulges are detected 4 - 6 weeks after topical application of 4-hydroxytamoxifen

• at 2 - 3 weeks after topical application of 4-hydroxytamoxifen the long term retaining cell region is expanded but by 6 weeks after application long term retaining cells appear to be lost

abnormal skin morphology ( J:167157 )

• broad disorganization of the interfollicular epithelium develops by 3 - 4 weeks after topical application of 4-hydroxytamoxifen

• hyperkeratosis is associated with loss of cellularity in the interfollicular epithelium

hyperkeratosis ( J:167157 )

• develops by 3 - 4 weeks after topical application of 4-hydroxytamoxifen

absent epidermis stratum granulosum ( J:167157 )

• after topical application of 4-hydroxytamoxifen

absent suprabasal layer ( J:167157 )

• after topical application of 4-hydroxytamoxifen

epidermal hyperplasia ( J:167157 )

• massive hyperplasia with increased cellularity in the interfollicular epithelium and the infundibulum in the first few weeks after topical application of 4-hydroxytamoxifen

• no abnormal cell death is seen in these lesions

spontaneous skin ulceration ( J:167157 )

• by 2 - 4 weeks after topical application of 4-hydroxytamoxifen, severe skin ulcerative lesions develop

abnormal skin condition ( J:167157 )

• between 1 - 2 weeks after topical application of 4-hydroxytamoxifen, back skin is ruffled and wrinkled

thick skin ( J:167157 )

• between 1 - 2 weeks after topical application of 4-hydroxytamoxifen, back skin is thickened

abnormal skin physiology ( J:167157 )

• increase in the proportion of proliferating epidermal cells in the first few weeks after topical application of 4-hydroxytamoxifen

abnormal keratinocyte physiology ( J:167157 )

• after 10 - 15 days in culture keratinocytes from 4-hydroxytamoxifen treated skin fail to develop typical holoclones (corresponding to long term clonal outgrowth of epidermal stem cells)

Genotype
MGI:4867863

cn3

• Allelic Composition: Cdkn2a^tm1Rdp/Cdkn2a^tm1Rdp; E4f1^tm1Pisc/E4f1^tm1.1Llca; Polr2a^{tm1(cre/ERT2)Bbd}/Polr2a⁺
• Genetic Background: involves: 129/Sv * 129S4/SvJae * C57BL/6 * SJL

integument

hyperkeratosis ( J:167157 )

• development of hyperkeratosis following 4-hydroxytamoxifen treatment is reduced and delayed compared to mutant mice wild-type for Cdkn2a

epidermal hyperplasia ( J:167157 )

• development of hyperplasia following 4-hydroxytamoxifen treatment is reduced and delayed compared to mutant mice wild-type for Cdkn2a

abnormal keratinocyte physiology ( J:167157 )

• partial restoration in long term outgrowth of 4-hydroxytamoxifen exposed keratinocytes in culture compared to mutant mice wild-type for Cdkn2a