Phenotypes Associated with This Genotype

Genotype
MGI:5435568

• Allelic Composition: Porcn^tm1.1Vdv/Y; Tg(KRT14-cre)1Efu/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J

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

Dental and skin abnormalities and alopecia in Porcn^tm1.1Vdv/Y Tg(KRT14-cre)1Efu/0 mice

integument

abnormal hypodermis fat layer morphology ( J:186934 )

♂ • in areas with thin skin the subcutaneous fat is directly adjacent to the outermost epidermal layers

alopecia ( J:186934 )

♂ • have large areas of thin skin with alopecia

♂ • mosaic pattern of the phenotype is consistent with variable Cre expression

abnormal hair follicle development ( J:186934 )

♂ • early budding of epidermal cells to form the hair placodes does not take place

thin skin ( J:186934 )

♂ • have large areas of thin skin with alopecia

♂ • mosaic pattern of the phenotype is consistent with variable Cre expression

craniofacial

abnormal tooth morphology ( J:186934 )

♂ • missing and hypoplastic teeth

adipose tissue

abnormal hypodermis fat layer morphology ( J:186934 )

♂ • in areas with thin skin the subcutaneous fat is directly adjacent to the outermost epidermal layers

growth/size/body

abnormal tooth morphology ( J:186934 )

♂ • missing and hypoplastic teeth

skeleton

abnormal tooth morphology ( J:186934 )

♂ • missing and hypoplastic teeth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:186934