Phenotypes Associated with This Genotype

Genotype
MGI:5812300

• Allelic Composition: Snap29^{tm1c(EUCOMM)Wtsi}/Snap29^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Cgn/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * DBA/2
• Cell Lines: EPD0065_4_B10

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

mortality/aging

neonatal lethality, complete penetrance ( J:236759 )

• pups die within a few hours after birth

growth/size/body

decreased birth body size ( J:236759 )

• slightly reduced body size

behavior/neurological

absent gastric milk in neonates ( J:236759 )

• none of the pups contain milk in their stomachs

cellular

abnormal keratinocyte differentiation ( J:236759 )

• marker analysis indicates disturbed epidermal differentiation of the epidermis

increased keratinocyte proliferation ( J:236759 )

homeostasis/metabolism

impaired skin barrier function ( J:236759 )

• newborns show severe functional impairment of the epidermal barrier

integument

decreased hair follicle number ( J:236759 )

• reduction of hair follicles down to 81% that of wild-type mice

abnormal epidermal layer morphology ( J:236759 )

• skin shows decreased deposition of neutral lipids and glucosylceramide in the epidermis

abnormal keratinocyte differentiation ( J:236759 )

• marker analysis indicates disturbed epidermal differentiation of the epidermis

abnormal corneocyte morphology ( J:236759 )

• corneocytes appear inhomogeneously filled with remnants of nondegraded organelles and electron-lucent vesicle-like structures compared to homogenously filled wild-type corneocytes

hyperkeratosis ( J:236759 )

• stratum corneum is thickened and its structure is condensed

abnormal epidermis stratum granulosum morphology ( J:236759 )

• the basket-like structure of the stratum granulosum is condensed in the epidermis

abnormal epidermal lamellar body morphology ( J:236759 )

• reduction of lamellar body contents in the epidermis

• diminished formation, maturation, and secretion of lamellar bodies

decreased keratohyalin granule number ( J:236759 )

• the number of profilaggrin containing keratohyalin granules in the upper stratum granulosum is decreased in the epidermis

acanthosis ( J:236759 )

abnormal skin appearance ( J:236759 )

• mice exhibit a congenital ichtyotic phenotype

scaly skin ( J:236759 )

tight skin ( J:236759 )

• skin is taut

abnormal skin physiology ( J:236759 )

• marker analysis indicates disturbed epidermal differentiation of the epidermis

increased keratinocyte proliferation ( J:236759 )

impaired skin barrier function ( J:236759 )

• newborns show severe functional impairment of the epidermal barrier

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
CEDNIK syndrome		DOID:0060337	OMIM:609528	J:236759