Trp63^tm2Brd
Targeted Allele Detail

Summary

• Symbol: Trp63^tm2Brd
• Name: transformation related protein 63; targeted mutation 2, Allan Bradley
• MGI ID: MGI:1934580
• Synonyms: p63^Brdm2, p63KO
• Gene: Trp63 Location: Chr16:25502513-25710842 bp, + strand Genetic Position: Chr16, 17.37 cM
• Alliance: Trp63^tm2Brd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54636
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: An integration vector disrupts the reading frame within exon 10. Northern blot analysis on homozygous mutant animals indicates that an mRNA transcript is not produced from this allele. (J:54636)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Trp63^tm2Brd/Trp63^tm2Brd	B6.129S7-Trp63^tm2Brd/J
hm2	Trp63^tm2Brd/Trp63^tm2Brd	involves: 129S7/SvEvBrd
hm3  Disease Model	Trp63^tm2Brd/Trp63^tm2Brd	involves: 129S7/SvEvBrd * C57BL/6J
ht4	Trp63^tm2Brd/Trp63^+	B6.129S7-Trp63^tm2Brd/J
ht5	Trp63^tm2Brd/Trp63^+	involves: 129S7/SvEvBrd
cn6	Tg(KRT5-cre/PGR)1Der/0 Trp63^tm2Brd/Trp63^tm3.1Brd	involves: 129S7/SvEvBrd * FVB * ICR
cx7	Kdf1^shd/Kdf1^shd Trp63^tm2Brd/Trp63^+	involves: 129S7/SvEvBrd * C3HeB/FeJ * C57BL/6J

Phenotypes:

Affected Systems	hm1	hm2	hm3	ht4	ht5		cn6	cx7
show or hide all annotated terms Sex:
behavior/neurological					√	√
weakness					√	√
circling					√	√
cardiovascular system					√	√
hemorrhage					√	√
cellular		√	√				√
increased apoptosis			√
decreased cell proliferation		√
early cellular replicative senescence		√					√
abnormal mitochondrial physiology			√
craniofacial	√	√	√	√	√	√	√
abnormal craniofacial morphology		√					√
abnormal facial morphology			√
absent teeth			√
abnormal tongue epithelium morphology					√	√
abnormal olfactory epithelium morphology	√
abnormal horizontal basal cell of olfactory epithelium morphology	√			√
digestive/alimentary system			√		√	√
abnormal tongue epithelium morphology					√	√
abnormal anus morphology			√
abnormal rectum morphology					√	√
rectal prolapse					√	√
embryo		√	√
abnormal primitive urogenital sinus morphology			√
abnormal apical ectodermal ridge morphology		√
absent apical ectodermal ridge			√
small limb buds			√
umbilical hernia			√
endocrine/exocrine glands	√
abnormal olfactory gland morphology	√
growth/size/body	√		√	√	√	√	√
abnormal facial morphology			√
absent teeth			√
abnormal tongue epithelium morphology					√	√
abnormal olfactory epithelium morphology	√
abnormal horizontal basal cell of olfactory epithelium morphology	√			√
weight loss							√
abnormal abdominal wall morphology			√
urinary bladder exstrophy			√
distended abdomen					√	√
homeostasis/metabolism			√
impaired skin barrier function			√
immune system					√	√
enlarged lymph nodes					√	√
kidney inflammation					√	√
uterine cervix inflammation					√
increased susceptibility to infection					√	√
integument		√	√		√	√	√	N
integument phenotype								N
alopecia					√	√	√
abnormal hair follicle development			√
abnormal skin morphology		√					√
abnormal epidermal layer morphology		√	√				√
absent epidermis stratum corneum			√
absent epidermis stratum granulosum			√
absent epidermis stratum spinosum			√
acanthosis					√	√
shiny skin			√
skin lesions					√	√
spontaneous skin ulceration					√	√
translucent skin			√
abnormal skin condition			√
abnormal skin physiology			√
impaired skin barrier function			√
limbs/digits/tail		√	√				√	N
limbs/digits/tail phenotype								N
abnormal limb morphology		√					√
abnormal apical ectodermal ridge morphology		√
absent apical ectodermal ridge			√
small limb buds			√
short forelimb			√
absent hindlimb			√
abnormal limb bone morphology			√
absent carpal bone			√
abnormal phalanx morphology			√
abnormal humerus morphology			√
absent radius			√
absent ulna			√
mortality/aging			√		√	√
premature death					√	√
neonatal lethality, complete penetrance			√
premature aging					√	√
muscle		N	√
muscle phenotype		N
abnormal urinary bladder detrusor smooth muscle morphology			√
renal/urinary system			√		√	√
urinary bladder exstrophy			√
kidney inflammation					√	√
abnormal urinary bladder detrusor smooth muscle morphology			√
abnormal urinary bladder urothelium morphology			√
absent urinary bladder urothelium			√
distended urinary bladder			√
reproductive system			√		√
uterine cervix inflammation					√
abnormal reproductive system morphology			√
abnormal uterine cervix epithelium morphology					√
respiratory system	√			√
abnormal olfactory epithelium morphology	√
abnormal horizontal basal cell of olfactory epithelium morphology	√			√
skeleton			√				√
absent teeth			√
abnormal limb bone morphology			√
absent carpal bone			√
abnormal phalanx morphology			√
abnormal humerus morphology			√
absent radius			√
absent ulna			√
abnormal pelvic girdle bone morphology			√
absent pubic symphysis			√
lordokyphosis							√
taste/olfaction	√			√
abnormal olfactory epithelium morphology	√
abnormal horizontal basal cell of olfactory epithelium morphology	√			√
abnormal olfactory gland morphology	√
vision/eye					√	√
abnormal cornea epithelium morphology					√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm3
bladder exstrophy IDs bladder exstrophy       DOID:0080174 ICD10CM:Q64.10 ICD9CM:753.5 MESH:D001746 OMIM:600057 ORDO:93930 Close	√
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 IDs ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3       DOID:0060783 MESH:C536189 NCI:C148261 OMIM:604292 ORDO:1896 UMLS_CUI:C0406704 Close	√

Expression

In Mice Carrying this Mutation:	54 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	36 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Trp63 Mutation: 60 strains or lines available

References

• Original: J:54636 Mills AA, et al., p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 1999 Apr 22;398(6729):708-13
• All: 48 reference(s)