Phenotypes Associated with This Genotype

Genotype
MGI:3588183

• Allelic Composition: Trp63^tm1Brd/Trp63^tm1Brd
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

• ♀: 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

absent apical ectodermal ridge ( J:54636 )

• at E11.5

small limb buds ( J:54636 )

• small and misshapen at E11.5

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 )

• forelimbs 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

craniofacial

abnormal facial morphology ( J:54636 )

• "abnormal facies"

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

absent hair follicles ( 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 )

• absent

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

growth/size/body

abnormal facial morphology ( J:54636 )

• "abnormal facies"

absent teeth ( J:54636 )

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:54636