Phenotypes associated with this allele

• Allele Symbol: Trp63⁺
• Allele Name: wild type
• Allele ID: MGI:2437307
• Summary: 15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Trp63^tm2Brd/Trp63^+	B6.129S7-Trp63^tm2Brd/J	MGI:5140827
ht2	Trp63^m1Mhda/Trp63^+	C3HeB/FeJ-Trp63^m1Mhda	MGI:5702913
ht3	Trp63^tm1Cmis/Trp63^+	involves: 129P2/OlaHsd * C57BL/6	MGI:5468673
ht4	Trp63^tm1Fmc/Trp63^+	involves: 129S4/SvJae	MGI:3695136
ht5	Trp63^tm1Fmc/Trp63^+	involves: 129S4/SvJae * C57BL/6	MGI:5289945
ht6	Trp63^tm3Aam/Trp63^+	involves: 129S7/SvEvBrd	MGI:6477390
ht7	Trp63^tm2Brd/Trp63^+	involves: 129S7/SvEvBrd	MGI:3798055
ht8	Trp63^tm3.1Aam/Trp63^+	involves: 129S7/SvEvBrd * BALB/c * C57BL/6	MGI:6477398
ht9	Trp63^tm3.2Aam/Trp63^+	involves: 129S7/SvEvBrd * BALB/c * C57BL/6	MGI:6477402
ht10	Trp63^tm1.1(cre)Ssig/Trp63^+	involves: 129S/SvEv * C57BL/6	MGI:5506938
ht11	Trp63^tm1Aam/Trp63^+	Not Specified	MGI:3797857
ht12	Trp63^tm2.2Elrf/Trp63^+	Not Specified	MGI:5576528
cx13	Trp53^tm1Tyj/Trp53^+ Trp63^tm1Fmc/Trp63^+	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6	MGI:5289961
cx14	Trp63^tm1Fmc/Trp63^+ Trp73^tm1Fmc/Trp73^+	involves: 129S4/SvJae * C57BL/6	MGI:5289956
cx15	Kdf1^shd/Kdf1^shd Trp63^tm2Brd/Trp63^+	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J	MGI:5559506

Genotype
MGI:5140827

ht1

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

• ♀: 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

Genotype
MGI:5702913

ht2

• Allelic Composition: Trp63^m1Mhda/Trp63⁺
• Genetic Background: C3HeB/FeJ-Trp63^m1Mhda

normal phenotype

no abnormal phenotype detected ( J:82809 )

• mice heterozygous for this mutation are viable and exhibit no obvious abnormality

Genotype
MGI:5468673

ht3

• Allelic Composition: Trp63^tm1Cmis/Trp63⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:191121 )

integument

abnormal epidermal layer morphology ( J:191121 )

• compromised desmosomes in the epidermis

blistering ( J:191121 )

abnormal keratinocyte physiology ( J:191121 )

• defects in cell-cell adhesion

• however, defects are alleviated by EGFR inhibition

craniofacial

cleft palate ( J:191121 )

digestive/alimentary system

cleft palate ( J:191121 )

growth/size/body

cleft palate ( J:191121 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome		DOID:0090119	OMIM:106260	J:191121

Genotype
MGI:3695136

ht4

• Allelic Composition: Trp63^tm1Fmc/Trp63⁺
• Genetic Background: involves: 129S4/SvJae

reproductive system

abnormal female reproductive system morphology ( J:79340 )

♀ • upper genital tract is slightly smaller but structurally identical to wild-type

small uterus ( J:79340 )

♀ • slightly smaller but structurally identical to wild-type

Genotype
MGI:5289945

ht5

• Allelic Composition: Trp63^tm1Fmc/Trp63⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

premature death ( J:98958 )

• half of heterozygous mutants are moribound by 14-15 months of age

• by 2 years of age, 32 of 40 mutants had to be sacrificed or died

• mice die from not only the malignant lesions but also from the benign lesions due to such things as obstructed airways from hyperplastic or premalignant lesions in the pharynx, larynx, mouth or tongue

premature aging ( J:98958 )

• 40% of mutants exhibit increased signs of aging, developing severe degenerative disc disease of the spine between 6 and 18 months of age

neoplasm

increased tumor incidence ( J:98958 )

• mutants show an increase in benign premalignant lesions such as squamous cell hyperplasia and multiple lung adenomas

• tumors undergo loss of heterozygosity

increased lung adenoma incidence ( J:98958 )

• frequency of lung adenomas is 2.5 times that seen in wild-type mice

increased malignant tumor incidence ( J:98958 )

increased histiocytic sarcoma incidence ( J:98958 )

• seen in 20% of mice by 12 months of age

increased squamous cell carcinoma incidence ( J:98958 )

• seen in 10% of mice by 12 months of age

skeleton

intervertebral disk degeneration ( J:98958 )

• 40% of mutants develop severe degenerative disc disease of the spine between 6 and 18 months of age

• degenerative disc disease is consistent with spondylosis and is most frequent in the cervical and thoracic region

respiratory system

increased lung adenoma incidence ( J:98958 )

• frequency of lung adenomas is 2.5 times that seen in wild-type mice

Genotype
MGI:6477390

ht6

• Allelic Composition: Trp63^tm3Aam/Trp63⁺
• Genetic Background: involves: 129S7/SvEvBrd

mortality/aging

perinatal lethality, incomplete penetrance ( J:294158 )

• fewer than the expected numbers of mice are seen at weaning with 18% lethality; lethality is apparent at birth

growth/size/body

abnormal tooth development ( J:294158 )

• defective tooth morphogenesis with abnormal root structures and hyperdontia

supernumerary teeth ( J:294158 )

abnormal tooth root morphology ( J:294158 )

• abnormal root structures

abnormal palatal shelf fusion at midline ( J:294158 )

• palatal shelves have not fused at E18.5

• adhesion and fusion of the secondary palate is stalled in a subset of E15 fetuses, appearing similar to palates of E13.5 wild-type mice

cleft palate ( J:294158 )

• severe cleft palate, with 15.4% of neonates exhibiting clefting

behavior/neurological

absent gastric milk in neonates ( J:294158 )

• newborns with cleft palate show absence of a milk pouch in the stomach

craniofacial

abnormal tooth development ( J:294158 )

• defective tooth morphogenesis with abnormal root structures and hyperdontia

supernumerary teeth ( J:294158 )

abnormal tooth root morphology ( J:294158 )

• abnormal root structures

abnormal palatal shelf fusion at midline ( J:294158 )

• palatal shelves have not fused at E18.5

• adhesion and fusion of the secondary palate is stalled in a subset of E15 fetuses, appearing similar to palates of E13.5 wild-type mice

cleft palate ( J:294158 )

• severe cleft palate, with 15.4% of neonates exhibiting clefting

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:294158 )

• palatal shelves have not fused at E18.5

• adhesion and fusion of the secondary palate is stalled in a subset of E15 fetuses, appearing similar to palates of E13.5 wild-type mice

cleft palate ( J:294158 )

• severe cleft palate, with 15.4% of neonates exhibiting clefting

integument

alopecia ( J:294158 )

• mice exhibit alopecia with age

ruffled hair ( J:294158 )

• mice exhibit ruffled coat with age

nail dystrophy ( J:294158 )

• dystrophic nails

abnormal keratinocyte physiology ( J:294158 )

• primary keratinocytes exhibit reduced proliferation and a corresponding increase in cellular senescence

• however, no major skin abnormalities are seen at E16.5 or P0

decreased keratinocyte proliferation ( J:294158 )

• primary keratinocytes exhibit reduced proliferation

limbs/digits/tail

abnormal limb morphology ( J:294158 )

• anomalies of the distal limbs

skeleton

abnormal tooth development ( J:294158 )

• defective tooth morphogenesis with abnormal root structures and hyperdontia

supernumerary teeth ( J:294158 )

abnormal tooth root morphology ( J:294158 )

• abnormal root structures

vision/eye

abnormal eye morphology ( J:294158 )

• mice exhibit eye squinting with age

cellular

decreased keratinocyte proliferation ( J:294158 )

• primary keratinocytes exhibit reduced proliferation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3		DOID:0060783	OMIM:604292	J:294158

Genotype
MGI:3798055

ht7

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

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

Genotype
MGI:6477398

ht8

• Allelic Composition: Trp63^tm3.1Aam/Trp63⁺
• Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6

craniofacial

cleft palate ( J:294158 )

• 2.3% of neonates exhibit cleft palate

cellular

decreased keratinocyte proliferation ( J:294158 )

• primary keratinocytes exhibit reduced proliferation

digestive/alimentary system

cleft palate ( J:294158 )

• 2.3% of neonates exhibit cleft palate

growth/size/body

cleft palate ( J:294158 )

• 2.3% of neonates exhibit cleft palate

integument

abnormal keratinocyte physiology ( J:294158 )

• primary keratinocytes exhibit reduced proliferation and a corresponding increases in cellular senescence

• however, no major skin abnormalities are seen at E16.5 or P0

decreased keratinocyte proliferation ( J:294158 )

• primary keratinocytes exhibit reduced proliferation

Genotype
MGI:6477402

ht9

• Allelic Composition: Trp63^tm3.2Aam/Trp63⁺
• Genetic Background: involves: 129S7/SvEvBrd * BALB/c * C57BL/6

mortality/aging

preweaning lethality, incomplete penetrance ( J:294158 )

♂ • approximate 8% lethality in weanlings, affecting only males

craniofacial

craniofacial phenotype ( J:294158 )

N • cleft palate is not detected in neonates

Genotype
MGI:5506938

ht10

• Allelic Composition: Trp63^{tm1.1(cre)Ssig}/Trp63⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:197339 )

• mice show no gross or microscopic phenotypic abnormalities and are fertile

Genotype
MGI:3797857

ht11

• Allelic Composition: Trp63^tm1Aam/Trp63⁺
• Genetic Background: Not Specified

limbs/digits/tail

abnormal phalanx morphology ( J:135784 )

• one mouse exhibits mild deviation of the central phalanges

ectrodactyly ( J:135784 )

• only observed in 1 of 40 mice

• mild ectodactyly is rare

skeleton

abnormal phalanx morphology ( J:135784 )

• one mouse exhibits mild deviation of the central phalanges

Genotype
MGI:5576528

ht12

• Allelic Composition: Trp63^tm2.2Elrf/Trp63⁺
• Genetic Background: Not Specified

integument

abnormal epidermis stratum basale morphology ( J:206433 )

• expanded epidermal basal layer

wrinkled skin ( J:206433 )

• excess folds of skin

Genotype
MGI:5289961

cx13

• Allelic Composition: Trp53^tm1Tyj/Trp53⁺; Trp63^tm1Fmc/Trp63⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

mortality/aging

premature death ( J:98958 )

• median age of survival is 7 months

premature aging ( J:98958 )

• 40% of mutants exhibit increased signs of aging, developing severe degenerative disc disease of the spine between 6 and 18 months of age

neoplasm

increased metastatic potential ( J:98958 )

• about 50% of mutants develop metastatic tumors

increased tumor incidence ( J:98958 )

• mutants exhibit an increase in tumor burden compared to heterozygous Trp53 mice, with 90% of mutant mice having multiple tumors of the same or distinct types compared to only 10% in Trp53 heterozygotes

• mutants develop collision tumors composed of mammary adenocarcinomas directly adjacent to squamous cell carcinomas and/or rhabdomyosarcomas

• tumors exhibit loss of heterozygosity of one or both genes

increased T cell derived lymphoma incidence ( J:98958 )

• 10% of mutants develop thymic lymphomas

increased mammary adenocarcinoma incidence ( J:98958 )

• 10% of mutants develop mammary adenocarcinomas

increased rhabdomyosarcoma incidence ( J:98958 )

• 20% of mutants develop rhabdomyosarcomas

increased chronic myelocytic leukemia incidence ( J:98958 )

• 15% of mutants develop myelogenous leukemia

increased squamous cell carcinoma incidence ( J:98958 )

• 50% of mutants develop squamous cell carcinomas in multiple tissues (larynx, pharynx, cervix, and esophagus)

increased urinary bladder transitional cell carcinoma incidence ( J:98958 )

• 20% of mutants develop transitional cell carcinoma of the bladder

increased osteosarcoma incidence ( J:98958 )

• 20% of mutants develop osteosarcomas

skeleton

increased osteosarcoma incidence ( J:98958 )

• 20% of mutants develop osteosarcomas

intervertebral disk degeneration ( J:98958 )

• 40% of mutants develop severe degenerative disc disease of the spine between 6 and 18 months of age

• degenerative disc disease is consistent with spondylosis and is most frequent in the cervical and thoracic region

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:98958 )

• 10% of mutants develop thymic lymphomas

increased mammary adenocarcinoma incidence ( J:98958 )

• 10% of mutants develop mammary adenocarcinomas

integument

increased mammary adenocarcinoma incidence ( J:98958 )

• 10% of mutants develop mammary adenocarcinomas

muscle

increased rhabdomyosarcoma incidence ( J:98958 )

• 20% of mutants develop rhabdomyosarcomas

renal/urinary system

increased urinary bladder transitional cell carcinoma incidence ( J:98958 )

• 20% of mutants develop transitional cell carcinoma of the bladder

hematopoietic system

increased T cell derived lymphoma incidence ( J:98958 )

• 10% of mutants develop thymic lymphomas

immune system

increased T cell derived lymphoma incidence ( J:98958 )

• 10% of mutants develop thymic lymphomas

Genotype
MGI:5289956

cx14

• Allelic Composition: Trp63^tm1Fmc/Trp63⁺; Trp73^tm1Fmc/Trp73⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

premature death ( J:98958 )

• mutants survive for a shorter period of time than either single mutant, with some mutants dying by 6 months of age

premature aging ( J:98958 )

• 60% of mutants exhibit increased signs of aging, developing severe degenerative disc disease of the spine between 6 and 18 months of age

neoplasm

increased metastatic potential ( J:98958 )

• about 30% of mutants develop metastatic tumors

increased tumor incidence ( J:98958 )

• tumors undergo loss of heterozygosity

• 50% of mutant mice have multiple tumors of the same or distinct types

increased salivary gland adenoma incidence ( J:98958 )

• salivary adenoma

increased T cell derived lymphoma incidence ( J:98958 )

• mutants that die by 6 months of age develop thymic lymphoma, hemangiosarcoma, or myelogenous leukemia

increased lung adenoma incidence ( J:98958 )

increased chronic myelocytic leukemia incidence ( J:98958 )

• mutants that die by 6 months of age develop myelogenous leukemia, thymic lymphoma, or hemangiosarcoma

increased carcinoma incidence ( J:98958 )

• mice that die between 6 and 12 months of age most frequently develop carcinomas

increased mammary adenocarcinoma incidence ( J:98958 )

increased lung adenocarcinoma incidence ( J:98958 )

increased squamous cell carcinoma incidence ( J:98958 )

increased hemangiosarcoma incidence ( J:98958 )

• mutants that die by 6 months of age develop hemangiosarcoma, myelogenous leukemia, or thymic lymphoma

skeleton

intervertebral disk degeneration ( J:98958 )

• 60% of mutants develop severe degenerative disc disease of the spine between 6 and 18 months of age

• degenerative disc disease is consistent with spondylosis and is most frequent in the cervical and thoracic region

behavior/neurological

paralysis ( J:98958 )

• in 10% of mutants, degenerative disc disease is so severe, it results in partial paralysis

endocrine/exocrine glands

increased salivary gland adenoma incidence ( J:98958 )

• salivary adenoma

increased T cell derived lymphoma incidence ( J:98958 )

• mutants that die by 6 months of age develop thymic lymphoma, hemangiosarcoma, or myelogenous leukemia

increased mammary adenocarcinoma incidence ( J:98958 )

respiratory system

increased lung adenoma incidence ( J:98958 )

increased lung adenocarcinoma incidence ( J:98958 )

integument

increased mammary adenocarcinoma incidence ( J:98958 )

digestive/alimentary system

increased salivary gland adenoma incidence ( J:98958 )

• salivary adenoma

hematopoietic system

increased T cell derived lymphoma incidence ( J:98958 )

• mutants that die by 6 months of age develop thymic lymphoma, hemangiosarcoma, or myelogenous leukemia

immune system

increased T cell derived lymphoma incidence ( J:98958 )

• mutants that die by 6 months of age develop thymic lymphoma, hemangiosarcoma, or myelogenous leukemia

craniofacial

increased salivary gland adenoma incidence ( J:98958 )

• salivary adenoma

growth/size/body

increased salivary gland adenoma incidence ( J:98958 )

• salivary adenoma

Genotype
MGI:5559506

cx15

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

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