About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3812462
Allelic
Composition
Krt14tm1Efu/Krt14tm1Efu
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt14tm1Efu mutation (0 available); any Krt14 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Krt14tm1Efu/Krt14tm1Efu mice exhibit gross blistering over body surface

mortality/aging
• the health of surviving mutants deteriorates as they age despite an improvement of the blistering on the body
• most mutants die around two days after birth

digestive/alimentary system
• esophagus appears fragile as it breaks and disintegrates easily upon dissection
• reduced number of keratin filaments in both basal and suprabasal layers of the esophagus and the cells have a network of dispersed filaments rather than bundled filaments as in wild-type

reproductive system
• vaginal epithelium is blistered

respiratory system
• trachea appears fragile as it breaks and disintegrates easily upon dissection

vision/eye
• thin corneal epithelium due to the basal cell cytolysis

integument
• the basal layer of the epidermis does not contain keratin filament bundles, although a residual, minor network of wispy filaments is attached to hemidesmosomes and desmosomes of the basal cells
• the epidermis of skin where a thick protective hair coat is not present exhibits basal cell cytolysis
• basal keratinocytes lack a substantial keratin filament network and exhibit severe cytolysis
• mutants begin to show skin blistering over the entire body within two days after birth
• similar to patients with epidermolysis bullosa simplex, initial blister formation occurs within the subnuclear cytoplasm of basal cells, however blistering is more severe than in humans
• some mutants survive and when the first hair coat becomes plush at around 2-4 weeks, their body trunk blisters heal without scarring

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
epidermolysis bullosa simplex DOID:4644 OMIM:601001
OMIM:615425
J:25763


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/16/2019
MGI 6.14
The Jackson Laboratory