Phenotypes Associated with This Genotype

Genotype
MGI:5311903

• Allelic Composition: Trp63^tm1Sin/Trp63^tm1Sin
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:181275 )

• all die shortly after birth

digestive/alimentary system

abnormal secondary palate development ( J:315539 )

• premature fusion with the nasal side of the palatine process of the nasal septum

• at E13.5, palatal epithelium lacks the layer of periderm-like cells between the juncture of the palatal epithelium and the tongue epithelium

cleft palate ( J:315539 )

• caused by premature fusion with the nasal side of the palatine process of the nasal septum

homeostasis/metabolism

dehydration ( J:181275 )

integument

absent sebaceous gland ( J:181275 )

• during development

absent hair follicles ( J:181275 )

• during development

abnormal keratinocyte morphology ( J:181275 )

• at E16.5 obvious defects in keratinocyte organization are detected

• at E18.5 keratinocytes are present in sparse clumps and no signs of normal epidermal stratification are detected

abnormal keratinocyte differentiation ( J:181275 )

• expression analysis indicates keratinocytes undergo accelerated differentiation

absent epidermis ( J:181275 )

• only small patches of epidermis are present and mature stratified epidermis is absent

abnormal skin development ( J:181275 )

• failure of keratinocytes to develop into a mature stratified epidermis

• at E14.5 the embryonic skin consists of a thin layer of intact epithelial cells, which appear hypoplastic

• at E16.5 obvious defects in keratinocyte organization are detected

abnormal keratinocyte physiology ( J:181275 )

• generalized failure of keratinocytes to properly form extracellular matrix, desmosomes, and hemidesmosome junctions

decreased keratinocyte proliferation ( J:181275 )

embryo

abnormal embryo development ( J:181275 )

• severe developmental defects

abnormal periderm morphology ( J:315539 )

• at E13.5 expression analysis indicates developing palates lack periderm on the lingual side

growth/size/body

abnormal secondary palate development ( J:315539 )

• premature fusion with the nasal side of the palatine process of the nasal septum

• at E13.5, palatal epithelium lacks the layer of periderm-like cells between the juncture of the palatal epithelium and the tongue epithelium

cleft palate ( J:315539 )

• caused by premature fusion with the nasal side of the palatine process of the nasal septum

decreased fetal size ( J:181275 )

• at E14.5

limbs/digits/tail

abnormal limb development ( J:181275 )

• variable extent of arrest of hindlimb and forelimb development

craniofacial

abnormal craniofacial development ( J:181275 )

abnormal secondary palate development ( J:315539 )

• premature fusion with the nasal side of the palatine process of the nasal septum

• at E13.5, palatal epithelium lacks the layer of periderm-like cells between the juncture of the palatal epithelium and the tongue epithelium

cleft palate ( J:315539 )

• caused by premature fusion with the nasal side of the palatine process of the nasal septum

cellular

abnormal keratinocyte differentiation ( J:181275 )

• expression analysis indicates keratinocytes undergo accelerated differentiation

decreased keratinocyte proliferation ( J:181275 )

endocrine/exocrine glands

absent sebaceous gland ( J:181275 )

• during development