Phenotypes Associated with This Genotype

Genotype
MGI:6477390

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

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

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