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Phenotypes Associated with This Genotype
Genotype
MGI:5812300
Allelic
Composition
Snap29tm1c(EUCOMM)Wtsi/Snap29tm1c(EUCOMM)Wtsi
Tg(KRT14-cre)1Cgn/0
Genetic
Background
involves: C57BL/6 * C57BL/6N * DBA/2
Cell Lines EPD0065_4_B10
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snap29tm1c(EUCOMM)Wtsi mutation (0 available); any Snap29 mutation (24 available)
Tg(KRT14-cre)1Cgn mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• pups die within a few hours after birth

growth/size/body
• slightly reduced body size

behavior/neurological
• none of the pups contain milk in their stomachs

cellular
• marker analysis indicates disturbed epidermal differentiation of the epidermis

homeostasis/metabolism
• newborns show severe functional impairment of the epidermal barrier

integument
• reduction of hair follicles down to 81% that of wild-type mice
• skin shows decreased deposition of neutral lipids and glucosylceramide in the epidermis
• marker analysis indicates disturbed epidermal differentiation of the epidermis
• corneocytes appear inhomogeneously filled with remnants of nondegraded organelles and electron-lucent vesicle-like structures compared to homogenously filled wild-type corneocytes
• stratum corneum is thickened and its structure is condensed
• the basket-like structure of the stratum granulosum is condensed in the epidermis
• reduction of lamellar body contents in the epidermis
• diminished formation, maturation, and secretion of lamellar bodies
• the number of profilaggrin containing keratohyalin granules in the upper stratum granulosum is decreased in the epidermis
• mice exhibit a congenital ichtyotic phenotype
• skin is taut
• marker analysis indicates disturbed epidermal differentiation of the epidermis
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory