Phenotypes associated with this allele

• Allele Symbol: Trp63^tm1.1Elrf
• Allele Name: targeted mutation 1.1, Elsa R Flores
• Allele ID: MGI:4355528
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trp63^tm1.1Elrf/Trp63^tm1.1Elrf	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:4355555
hm2	Trp63^tm1.1Elrf/Trp63^tm1.1Elrf	involves: C57BL/6 * FVB/N	MGI:4355554
cx3	Trp53^tm1Tyj/Trp53^tm1Tyj Trp63^tm1.1Elrf/Trp63^tm1.1Elrf	either: (involves: 129S2/SvPas * C57BL/6 * FVB/N) or (involves: 129S2/SvPas * 129S4/SvJae * 129S6/SvEvTac * C57BL/6)	MGI:4355557

Genotype
MGI:4355555

hm1

• Allelic Composition: Trp63^tm1.1Elrf/Trp63^tm1.1Elrf
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6

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

mortality/aging

mortality/aging ( J:151638 )

N • Background Sensitivity: unlike mice on an enriched C57BL/6 background, mice do not exhibit embryonic lethality

premature death ( J:151638 )

• median survival is 333 days compared to 712 days for wild-type mice

premature aging ( J:151638 )

• mice exhibit signs of premature aging including ulcerating wounds and premature death

cellular

aneuploidy ( J:151638 )

• in primary epidermal cell cultures unlike in wild-type cells

early cellular replicative senescence ( J:151638 )

• at 1 month, mice stain positive for a senescence-associated marker in the bulge region, the dermal sheath, and papilla of hair follicles unlike in wild-type mice

• skin-derived precursors isolated from 1 month old mice exhibit increased staining for a marker of senescence and apoptosis compared with wild-type cells

chromosomal instability ( J:151638 )

• primary epidermal cell cultures exhibit numerous cytogenetic aberrations unlike wild-type cells

homeostasis/metabolism

impaired wound healing ( J:151638 )

• at 1 month, mice fail to heal skin wounds after 6 days and exhibit reduced proliferation in the dermis of the wound compared to similarly treated wild-type mice

digestive/alimentary system

abnormal esophageal epithelium morphology ( J:151638 )

• mice develop epithelial esophagus cysts unlike wild-type mice

gastric cyst ( J:151638 )

• mice develop epithelial stomach cysts unlike wild-type mice

renal/urinary system

kidney cyst ( J:151638 )

abnormal urinary bladder urothelium morphology ( J:151638 )

• mice develop epithelial bladder cysts unlike wild-type mice

skeleton

kyphosis ( J:151638 )

• by 8 months, 25% of mice exhibit kyphosis

• by 10 months, 86% of mice exhibit kyphosis compared to 14% of wild-type mice

integument

decreased hair follicle number ( J:151638 )

• at 6 to 12 months, mice exhibit many areas without hair follicles unlike in wild-type mice

• at 6 to 12 months, 30% to 40% of mice exhibit hairless back skin unlike wild-type mice

• however, at 1 month mice exhibit normal hair follicle numbers

blistering ( J:151638 )

• mice exhibit small skin blisters during early adulthood

spontaneous skin ulceration ( J:151638 )

• by 1 months of age, 33% of mice develop ulcerating wounds on their dorsal and ventral sides that fail to heal unlike wild-type mice

• by 2 to 4 months, the remaining 67% of mice develop blisters and ulcerations unlike wild-type mice

abnormal skin physiology ( J:151638 )

• epidermal cells from newborn mice fail to produce proliferating K5+ colonies when cultured unlike similarly treated wild-type cells

• skin-derived precursors isolated young mice exhibit a 4- to 5-fold increase in proliferation compared with wild-type cells

• skin-derived precursors isolated from young mice exhibit 3- to 4-fold more robust self-renewal than wild-type cells

• skin-derived precursors isolated from 1 month old mice exhibit increased staining for a marker of senescence and apoptosis compared with wild-type cells

• dermal sheaths in 1 month old mice stains positive for gammaH2AX (H2afx), a marker of DNA damage unlike in wild-type mice

• 80% to 70% of skin-derived precursor cells isolated from 1 month old mice are positive for gammaH2AX (H2afx), a marker of DNA damage, unlike wild-type cells

• however, newborn epdiermal cells will differentiate into K10+ cells following treatment with high calcium

• however, differentiation and migratory capacity of skin-derived precursor cells are normal and skin-derived precursor hyperproliferation is rescued by transfection with p57^Kip2 (Cdkn1c)

• however, skin-derived precursor cells isolated from young mice do not stain positive for H2afx

growth/size/body

gastric cyst ( J:151638 )

• mice develop epithelial stomach cysts unlike wild-type mice

kidney cyst ( J:151638 )

Genotype
MGI:4355554

hm2

• Allelic Composition: Trp63^tm1.1Elrf/Trp63^tm1.1Elrf
• Genetic Background: involves: C57BL/6 * FVB/N

mortality/aging

premature death ( J:151638 )

• median survival is 333 days compared to 712 days for wild-type mice

embryonic lethality, incomplete penetrance ( J:151638 )

• Background Sensitivity: mice with an enriched C57BL/6 background exhibit 35% embryonic lethality unlike mice on a mixed 129S and C57BL/6 background

premature aging ( J:151638 )

• mice exhibit signs of premature aging including ulcerating wounds and premature death

cellular

aneuploidy ( J:151638 )

• in primary epidermal cell cultures unlike in wild-type cells

early cellular replicative senescence ( J:151638 )

• at 1 month, mice stain positive for a senescence-associated marker in the bulge region, the dermal sheath, and papilla of hair follicles unlike in wild-type mice

• skin-derived precursors isolated from 1 month old mice exhibit increased staining for a marker of senescence and apoptosis compared with wild-type cells

chromosomal instability ( J:151638 )

• primary epidermal cell cultures exhibit numerous cytogenetic aberrations unlike wild-type cells

homeostasis/metabolism

impaired wound healing ( J:151638 )

• at 1 month, mice fail to heal skin wounds after 6 days and exhibit reduced proliferation in the dermis of the wound compared to similarly treated wild-type mice

digestive/alimentary system

abnormal esophageal epithelium morphology ( J:151638 )

• mice develop epithelial esophagus cysts unlike wild-type mice

gastric cyst ( J:151638 )

• mice develop epithelial stomach cysts unlike wild-type mice

renal/urinary system

kidney cyst ( J:151638 )

abnormal urinary bladder urothelium morphology ( J:151638 )

• mice develop epithelial bladder cysts unlike wild-type mice

skeleton

kyphosis ( J:151638 )

• by 8 months, 25% of mice exhibit kyphosis

• by 10 months, 86% of mice exhibit kyphosis compared to 14% of wild-type mice

integument

decreased hair follicle number ( J:151638 )

• at 6 to 12 months, mice exhibit many areas without hair follicles unlike in wild-type mice

• at 6 to 12 months, 30% to 40% of mice exhibit hairless back skin unlike wild-type mice

• however, at 1 month mice exhibit normal hair follicle numbers

blistering ( J:151638 )

• mice exhibit small skin blisters during early adulthood

spontaneous skin ulceration ( J:151638 )

• by 1 months of age, 33% of mice develop ulcerating wounds on their dorsal and ventral sides that fail to heal unlike wild-type mice

• by 2 to 4 months, the remaining 67% of mice develop blisters and ulcerations unlike wild-type mice

abnormal skin physiology ( J:151638 )

• epidermal cells from newborn mice fail to produce proliferating K5+ colonies when cultured unlike similarly treated wild-type cells

• however, newborn epdiermal cells will differentiate into K10+ cells following treatment with high calcium

• skin-derived precursors isolated young mice exhibit a 4- to 5-fold increase in proliferation compared with wild-type cells

• skin-derived precursors isolated from young mice exhibit 3- to 4-fold more robust self-renewal than wild-type cells

• however, differentiation and migratory capacity of skin-derived precursor cells are normal and skin-derived precursor hyperproliferation is rescued by transfection with p57^Kip2 (Cdkn1c)

• skin-derived precursors isolated from 1 month old mice exhibit increased staining for a marker of senescence and apoptosis compared with wild-type cells

• dermal sheaths in 1 month old mice stains positive for gammaH2AX (H2afx), a marker of DNA damage unlike in wild-type mice

• 80% to 70% of skin-derived precursor cells isolated from 1 month old mice are positive for gammaH2AX (H2afx), a marker of DNA damage, unlike wild-type cells

• however, skin-derived precursor cells isolated from young mice do not stain positive for H2afx

growth/size/body

gastric cyst ( J:151638 )

• mice develop epithelial stomach cysts unlike wild-type mice

kidney cyst ( J:151638 )

Genotype
MGI:4355557

cx3

• Allelic Composition: Trp53^tm1Tyj/Trp53^tm1Tyj; Trp63^tm1.1Elrf/Trp63^tm1.1Elrf
• Genetic Background: either: (involves: 129S2/SvPas * C57BL/6 * FVB/N) or (involves: 129S2/SvPas * 129S4/SvJae * 129S6/SvEvTac * C57BL/6)

cellular

early cellular replicative senescence ( J:151638 )

• skin-derived precursors isolated from 1 month old mice exhibit increased staining for a marker of senescence and decreased apoptosis compared with wild-type and Trp63^tm1.1Elrf cells

integument

abnormal skin physiology ( J:151638 )

• after 8 days in culture, epidermal cells form fewer proliferating colonies than wild-type cells but more than Trp63^tm1.1Elrf cells

• after 20 days in culture, epidermal cells fail to form proliferating colonies unlike similarly treated wild-type cells

• skin-derived precursors isolated from 1 month old mice exhibit increased staining for a marker of senescence and decreased apoptosis compared with wild-type and Trp63^tm1.1Elrf cells