Phenotypes Associated with This Genotype

Genotype
MGI:5812299

• Allelic Composition: Snap29^{tm1b(EUCOMM)Wtsi}/Snap29^{tm1b(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N * FVB/N

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

growth/size/body

decreased birth body size ( J:236759 )

• slightly reduced body size

cellular

abnormal autophagy ( J:236759 )

• autophagy is altered

abnormal endoplasmic reticulum physiology ( J:236759 )

• endoplasmic reticulum function is altered

increased endoplasmic reticulum stress ( J:236759 )

• indicated by marker analysis

integument

hyperkeratosis ( J:236759 )

• stratum corneum is thickened and its structure is condensed

abnormal epidermal lamellar body morphology ( J:236759 )

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

homeostasis/metabolism

abnormal autophagy ( J:236759 )

• autophagy is altered

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