Phenotypes associated with this allele

• Allele Symbol: Krt14^tm1Der
• Allele Name: targeted mutation 1, Dennis R Roop
• Allele ID: MGI:2653126
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Krt14^tm1Der/Krt14^tm1Der	involves: 129X1/SvJ	MGI:2653129
cn2	Krt14^tm1Der/Krt14^+ Tg(KRT14-cre/PGR)1Der/?	involves: 129X1/SvJ * FVB * ICR	MGI:3812200
cn3	Krt14^tm1Der/Krt14^+ Tg(KRT5-cre/PGR)1Der/?	involves: 129X1/SvJ * FVB * ICR	MGI:3812201

Genotype
MGI:2653129

hm1

• Allelic Composition: Krt14^tm1Der/Krt14^tm1Der
• Genetic Background: involves: 129X1/SvJ

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

Severe blisters on the front legs, paws, and chest of Krt14^tm1Der/Krt14^tm1Der pups

mortality/aging

postnatal lethality, complete penetrance ( J:67320 )

• usually die within 48 hours after birth

integument

abnormal keratinocyte morphology ( J:67320 )

• basal keratinocytes of lesional areas contain keratin clumps

• isolated primary keratinocytes subjected to heat shock show a collapsed perinuclear intermediate filament network and cytoplasmic keratin aggregates

blistering ( J:67320 )

• mutants develop extensive blisters on the front legs, paws, and chest within hours after birth

• the separation occurs within the basal cell layer of the epidermis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex		DOID:4644	OMIM:601001 OMIM:615425	J:67320

Genotype
MGI:3812200

cn2

• Allelic Composition: Krt14^tm1Der/Krt14⁺; Tg(KRT14-cre/PGR)1Der/?
• Genetic Background: involves: 129X1/SvJ * FVB * ICR

integument

blistering ( J:67320 )

• after application of a topical antiprogestin, RU486, to the forelimbs and chest of newborn pups so that the cre transgene translocates from the cytoplasm to the nucleus of epidermal cells and becomes active, mice developed blisters filled with fluid on the front legs and paws

• blistering occurs within the basal layer of the epidermis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex Dowling-Meara type		DOID:0060735	OMIM:131760	J:67320

Genotype
MGI:3812201

cn3

• Allelic Composition: Krt14^tm1Der/Krt14⁺; Tg(KRT5-cre/PGR)1Der/?
• Genetic Background: involves: 129X1/SvJ * FVB * ICR

integument

blistering ( J:67320 )

• after application of a topical antiprogestin, RU486, to the forelimbs and chest of newborn pups so that the cre transgene translocates from the cytoplasm to the nucleus of epidermal cells and becomes active, mice developed blisters filled with fluid on the front legs and paws

• blistering occurs within the basal layer of the epidermis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex Dowling-Meara type		DOID:0060735	OMIM:131760	J:67320