Phenotypes Associated with This Genotype

Genotype
MGI:5049887

• Allelic Composition: Porcn^tm1.1Lcm/Porcn⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

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

Focal dermal hypoplasia-like phenotypes in Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/0 embryos

mortality/aging

perinatal lethality, complete penetrance ( J:173672 )

♀ • only 1 viable pup was produced from several litters

limbs/digits/tail

abnormal autopod morphology ( J:173672 )

♀ • absent

absent ulna ( J:173672 )

♀

abnormal tail morphology ( J:173672 )

♀

short tail ( J:173672 )

♀ • tail hypoplasia at E17.5

integument

integument phenotype ( J:173672 )

♀N • mice exhibit normal keratinocyte development

hairless ( J:173672 )

♀ • in one mouse produced on its ventral skin

abnormal hair follicle development ( J:173672 )

♀ • at E17.5, mice exhibit large patches of abnormally smooth, hair follicle-free epidermis unlike in wild-type mice

thin dermal layer ( J:173672 )

♀ • mice exhibit dermal atrophy unlike wild-type mice

growth/size/body

cleft palate ( J:173672 )

♀ • at E17.5

omphalocele ( J:173672 )

♀ • at E17.5

decreased body size ( J:173672 )

♀ • in one mouse produced

embryo

caudal body truncation ( J:173672 )

♀ • tail/posterior axis truncation

craniofacial

cleft palate ( J:173672 )

♀ • at E17.5

skeleton

absent ulna ( J:173672 )

♀

sternum hypoplasia ( J:173672 )

♀ • in severe cases

digestive/alimentary system

cleft palate ( J:173672 )

♀ • at E17.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal dermal hypoplasia		DOID:2120	OMIM:305600	J:173672