All Phenotypes Trp63<tm2Brd> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trp63^tm2Brd/Trp63^tm2Brd	B6.129S7-Trp63^tm2Brd/J	MGI:5140826
hm2	Trp63^tm2Brd/Trp63^tm2Brd	involves: 129S7/SvEvBrd	MGI:3773057
hm3	Trp63^tm2Brd/Trp63^tm2Brd	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3511141
ht4	Trp63^tm2Brd/Trp63⁺	B6.129S7-Trp63^tm2Brd/J	MGI:5140827
ht5	Trp63^tm2Brd/Trp63⁺	involves: 129S7/SvEvBrd	MGI:3798055
cn6	Tg(KRT5-cre/PGR)1Der/0 Trp63^tm2Brd/Trp63^tm3.1Brd	involves: 129S7/SvEvBrd * FVB * ICR	MGI:3798054
cx7	Kdf1^shd/Kdf1^shd Trp63^tm2Brd/Trp63⁺	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J	MGI:5559506

Allelic Composition	Trp63^tm2Brd/Trp63^tm2Brd
Genetic Background	B6.129S7-Trp63^tm2Brd/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 available)

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

taste/olfaction

abnormal olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

• at P0, axon bundles are not covered over by the arching processes of basal cells

• cells with olfactory gland morphology are clustered in the olfactory epithelium superficial to the basal lamina

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

abnormal olfactory gland morphology ( J:173538 )

• at P0 the extension of the ducts of the olfactory glands into the lamina propria is stunted

endocrine/exocrine glands

abnormal olfactory gland morphology ( J:173538 )

• at P0 the extension of the ducts of the olfactory glands into the lamina propria is stunted

respiratory system

abnormal olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

• at P0, axon bundles are not covered over by the arching processes of basal cells

• cells with olfactory gland morphology are clustered in the olfactory epithelium superficial to the basal lamina

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

craniofacial

abnormal olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

• at P0, axon bundles are not covered over by the arching processes of basal cells

• cells with olfactory gland morphology are clustered in the olfactory epithelium superficial to the basal lamina

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

growth/size/body

abnormal olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

• at P0, axon bundles are not covered over by the arching processes of basal cells

• cells with olfactory gland morphology are clustered in the olfactory epithelium superficial to the basal lamina

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, failure of horizontal basal cells differentiation

Allelic Composition	Trp63^tm2Brd/Trp63^tm2Brd
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 available)

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

limbs/digits/tail

abnormal limb morphology ( J:100483 )

• at E17.5

abnormal apical ectodermal ridge morphology ( J:135784 )

• unstratified

cellular

decreased cell proliferation ( J:100483 )

early cellular replicative senescence ( J:100483 )

• mice exhibit an increase in cellular senescence

craniofacial

abnormal craniofacial morphology ( J:100483 )

• at E17.5

muscle

muscle phenotype ( J:98439 )

N	• proximal thigh and cloacal/perineal muscles are fully formed

embryo

abnormal apical ectodermal ridge morphology ( J:135784 )

• unstratified

integument

abnormal skin morphology ( J:100483 )

• at E17.5

abnormal epidermal layer morphology ( J:100483 )

• mice exhibit stratified epidermal layer and arrested epidermal morphogenesis

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

mortality/aging

neonatal lethality, complete penetrance ( J:54636 )

• death occurs within several hours of birth

embryo

abnormal primitive urogenital sinus morphology ( J:119657 )

• at E11.5, both the mesenchyme and epithelium of the ventral UGS develop abnormally

• at E11.5, apoptosis is significantly increased in the ventral UGS epithelium, as determined by TUNEL assay and cleaved caspase-3 expression

• at E11.5, a reduction in cell proliferation is observed in the UGS mesenchyme relative to wild-type controls, as shown by BrdU staining

absent apical ectodermal ridge ( J:54636 )

• at E11.5

small limb buds ( J:54636 )

• small and misshapen at E11.5

umbilical hernia ( J:119657 )

• at E18.5, homozygotes with bladder exstrophy exhibit umbilical hernia

limbs/digits/tail

absent apical ectodermal ridge ( J:54636 )

• at E11.5

small limb buds ( J:54636 )

• small and misshapen at E11.5

short forelimb ( J:54636 )

• truncated

absent hindlimb ( J:54636 )

abnormal limb bone morphology ( J:54636 )

absent carpal bone ( J:54636 )

• all are missing

abnormal phalanx morphology ( J:54636 )

• absent

abnormal humerus morphology ( J:54636 )

• usually truncated, thinner than normal and deformed

absent radius ( J:54636 )

absent ulna ( J:54636 )

• sometimes absent

skeleton

absent teeth ( J:54636 )

abnormal limb bone morphology ( J:54636 )

absent carpal bone ( J:54636 )

• all are missing

abnormal phalanx morphology ( J:54636 )

• absent

abnormal humerus morphology ( J:54636 )

• usually truncated, thinner than normal and deformed

absent radius ( J:54636 )

absent ulna ( J:54636 )

• sometimes absent

abnormal pelvic girdle bone morphology ( J:54636 )

• pelvic girdle usually present but lacking ossification centers

absent pubic symphysis ( J:119657 )

• at E18.5, homozygotes with bladder exstrophy exhibit absence of pubic symphysis at the midline (i.e. separation of the pubic bones)

craniofacial

abnormal facial morphology ( J:54636 )

• abnormal faces

absent teeth ( J:54636 )

homeostasis/metabolism

impaired skin barrier function ( J:54636 )

• water loss occurs 30X more rapidly than in controls, a skin permeability problem

integument

abnormal hair follicle development ( J:54636 )

• skin at birth totally lacks hair follicles

abnormal epidermal layer morphology ( J:54636 )

• reduced to a single layer of flattened cells

• epithelium of tongue and oral cavity is similar to the epidermis

absent epidermis stratum corneum ( J:54636 )

absent epidermis stratum granulosum ( J:54636 )

absent epidermis stratum spinosum ( J:54636 )

shiny skin ( J:54636 )

translucent skin ( J:54636 )

abnormal skin condition ( J:54636 )

abnormal skin physiology ( J:54636 )

• epidermal development apparently stops around E9.5

impaired skin barrier function ( J:54636 )

• water loss occurs 30X more rapidly than in controls, a skin permeability problem

renal/urinary system

urinary bladder exstrophy ( J:119657 )

• at E18.5, 4 of 12 homozygotes display bladder exstrophy with ventral bladder- and abdominal-wall defects (with and without membrane cover)

• the remaining 8 embryos develop dilated bladders with both thin lamina propria and thin muscle layers

• at E18.5, the lamina propria is either greatly reduced or absent

abnormal urinary bladder detrusor smooth muscle morphology ( J:119657 )

• at E18.5, 8 of 12 homozygotes exhibit dilated bladders with thin muscle layers

• at E14.5, premature smooth-muscle differentiation is observed relative to wild-type bladders

• at E18.5, little or no smooth muscle is detected ventrally, while a thin layer of smooth muscle is retained dorsally

• dorsal smooth muscle appears disorganized and non-stratified, unlike in wild-type bladders

abnormal urinary bladder urothelium morphology ( J:119657 )

• at E18.5, an abnormal bladder epithelium is observed along the dorso-ventral axis, with the dorsal epithelium consisting mainly of simple cuboidal cells and the ventral epithelium consisting primarily of simple squamous cells

• the ventral urothelium is neither committed to stratification nor differentiated, whereas the dorsal urothelium is both committed and differentiated

• at E11.5, a reduction in cell proliferation is observed in the ventral bladder epithelium and in adjacent mesenchyme relative to wild-type controls, as shown by BrdU staining

• at E12.5, an increase in ventral bladder epithelial apoptosis is associated with a transient upregulation of p53 and p73 expression

• at E12.5 and E13.5, developing bladders exhibit increased mitochondrial apoptotic activity relative to wild-type controls

absent urinary bladder urothelium ( J:119657 )

• at E18.5, the bladder epithelium fails to differentiate into stratified transitional urothelium and remains as a single layer, unlike in wild-type controls

distended urinary bladder ( J:119657 )

• at E18.5, 8 of 12 homozygotes develop dilated bladders with both thin lamina propria and thin muscle layers

reproductive system

abnormal reproductive system morphology ( J:119657 )

• at E18.5, homozygotes with bladder exstrophy exhibit absence of external genitalia at the midline (i.e. bifid genitalia)

• separation of external genitalia is already noted at E11.5

growth/size/body

abnormal facial morphology ( J:54636 )

• abnormal faces

absent teeth ( J:54636 )

abnormal abdominal wall morphology ( J:119657 )

• at E18.5, 4 of 12 homozygotes display ventral abdominal wall defects

urinary bladder exstrophy ( J:119657 )

• at E18.5, 4 of 12 homozygotes display bladder exstrophy with ventral bladder- and abdominal-wall defects (with and without membrane cover)

• the remaining 8 embryos develop dilated bladders with both thin lamina propria and thin muscle layers

• at E18.5, the lamina propria is either greatly reduced or absent

digestive/alimentary system

abnormal anus morphology ( J:119657 )

• at E18.5, homozygotes with bladder exstrophy exhibit ventral translocation of the anus

muscle

abnormal urinary bladder detrusor smooth muscle morphology ( J:119657 )

• at E18.5, 8 of 12 homozygotes exhibit dilated bladders with thin muscle layers

• at E14.5, premature smooth-muscle differentiation is observed relative to wild-type bladders

• at E18.5, little or no smooth muscle is detected ventrally, while a thin layer of smooth muscle is retained dorsally

• dorsal smooth muscle appears disorganized and non-stratified, unlike in wild-type bladders

cellular

increased apoptosis ( J:119657 )

• at E11.5, apoptosis is significantly increased in the ventral UGS epithelium, in skin overlying the urogenital tubercles, and in oral-cavity epithelium, as determined by TUNEL assay and/or cleaved caspase-3 expression

abnormal mitochondrial physiology ( J:119657 )

• at E12.5 and E13.5, developing bladders exhibit increased mitochondrial apoptotic activity, as revealed by increased expression of the mitochondrial apoptotic mediators

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
bladder exstrophy	DOID:0080174	OMIM:600057	J:119657
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	DOID:0060783	OMIM:604292	J:54636

Allelic Composition	Trp63^tm2Brd/Trp63⁺
Genetic Background	B6.129S7-Trp63^tm2Brd/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 available)

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

taste/olfaction

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, fewer horizontal basal cells are present

respiratory system

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, fewer horizontal basal cells are present

craniofacial

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, fewer horizontal basal cells are present

growth/size/body

abnormal horizontal basal cell of olfactory epithelium morphology ( J:173538 )

• at P0, fewer horizontal basal cells are present

Allelic Composition	Trp63^tm2Brd/Trp63⁺
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 available)

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

mortality/aging

premature death ( J:100483 )

• median life span is 95 weeks compared to 121 weeks for wild-type mice

• longevity is decreased 21.5% compared to wild-type mice

premature aging ( J:100483 )

• mice are euthanized due to age-related health issues (skin lesions or infections, weakness, palpable lymph nodes, enlarged abdomen, hemorrhage, rectal prolapse and aberrant circling behavior) earlier than wild-type mice

immune system

enlarged lymph nodes ( J:100483 )

• 19% of of euthanized mice exhibit palpable lymph nodes

kidney inflammation ( J:100483 )

• mice exhibit chronic nephritis

uterine cervix inflammation ( J:100483 )

• mice exhibit vaginal cervicitis

increased susceptibility to infection ( J:100483 )

• mice develop chronic infections if the skin, subcutaneous tissues, oropharynx and genitourinary tract

digestive/alimentary system

abnormal tongue epithelium morphology ( J:100483 )

• mice exhibit lesions in the epithelium of the tongue

• mice exhibit acanthosis of the tongue epithelia

abnormal rectum morphology ( J:100483 )

• mice exhibit lesions in the epithelium of the rectum

rectal prolapse ( J:100483 )

• 6% of euthanized mice exhibit rectal prolapse

cardiovascular system

hemorrhage ( J:100483 )

• 12% of euthanized mice exhibit visible signs of hemorrhage

reproductive system

uterine cervix inflammation ( J:100483 )

• mice exhibit vaginal cervicitis

abnormal uterine cervix epithelium morphology ( J:100483 )

• mice exhibit lesions in the epithelium of the cervix

renal/urinary system

kidney inflammation ( J:100483 )

• mice exhibit chronic nephritis

growth/size/body

abnormal tongue epithelium morphology ( J:100483 )

• mice exhibit lesions in the epithelium of the tongue

• mice exhibit acanthosis of the tongue epithelia

distended abdomen ( J:100483 )

• 14% of euthanized mice exhibit enlarged abdomen

behavior/neurological

weakness ( J:100483 )

• 35% of euthanized mice exhibit extreme weakness

circling ( J:100483 )

• 2% of euthanized mice exhibit aberrant circling

vision/eye

abnormal cornea epithelium morphology ( J:100483 )

• mice exhibit lesions in the epithelium of the cornea of the eye

• mice exhibit corneal granulation

craniofacial

abnormal tongue epithelium morphology ( J:100483 )

• mice exhibit lesions in the epithelium of the tongue

• mice exhibit acanthosis of the tongue epithelia

integument

alopecia ( J:100483 )

• mice exhibit moderate alopecia

acanthosis ( J:100483 )

• mice exhibit acanthosis of the tongue epithelia

skin lesions ( J:100483 )

• 52% of euthanized mice exhibit skin lesions or infections mice exhibit hyperplastic epithelila and progressive skin lesions

spontaneous skin ulceration ( J:100483 )

• mice exhibit ulcerations with severe abscesses in the dermis that often contain bacterial inclusions

Allelic Composition	Tg(KRT5-cre/PGR)1Der/0 Trp63^tm2Brd/Trp63^tm3.1Brd
Genetic Background	involves: 129S7/SvEvBrd * FVB * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(KRT5-cre/PGR)1Der mutation (2 available)
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 available)
Trp63^tm3.1Brd mutation (0 available); any Trp63 mutation (58 available)

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

cellular

early cellular replicative senescence ( J:100483 )

• following treatment with mifepristonein in utero, mice exhibit an increase in cellular senescence

craniofacial

abnormal craniofacial morphology ( J:100483 )

• at E17.5 following treatment with mifepristonein in utero

limbs/digits/tail

abnormal limb morphology ( J:100483 )

• at E17.5 following treatment with mifepristonein in utero

growth/size/body

weight loss ( J:100483 )

• following treatment with mifepristonein at 8 months of age

skeleton

lordokyphosis ( J:100483 )

• following treatment with mifepristonein at 8 months of age, mice exhibit lordokyphosis that increases with severity as mice age

integument

alopecia ( J:100483 )

• following treatment with mifepristonein at 8 months of age, mice exhibit severe alopecia

abnormal skin morphology ( J:100483 )

• at E17.5 following treatment with mifepristonein in utero or at 8 months of age

abnormal epidermal layer morphology ( J:100483 )

• following treatment with mifepristonein utero, mice exhibit stratified epidermal layer and arrested epidermal morphogenesis

Allelic Composition	Kdf1^shd/Kdf1^shd Trp63^tm2Brd/Trp63⁺
Genetic Background	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kdf1^shd mutation (0 available); any Kdf1 mutation (19 available)
Trp63^tm2Brd mutation (1 available); any Trp63 mutation (58 available)

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

integument

integument phenotype ( J:203995 )

N	• epidermal barrier formation, increased basal keratinocyte proliferation, lateral epidermis thickness and impaired keratinocyte differentiation defects observed in 1810019J16Rik^shd homozygotes are rescued

limbs/digits/tail

limbs/digits/tail phenotype ( J:203995 )

N	• limb protrusion defects and tail-hindlimb fusion observed in 1810019J16Rik^shd homozygotes homozygotes is rescued

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