Phenotypes Associated with This Genotype

Genotype
MGI:3582826

• Allelic Composition: Krt5^tm1Tmm/Krt5^tm1Tmm
• Genetic Background: involves: 129P2/OlaHsd * BALB/c

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

mortality/aging

neonatal lethality, complete penetrance ( J:76311 )

• died within first hour after birth

• trouble breathing due to loose and torn skin

digestive/alimentary system

abnormal palate morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the palate

abnormal tongue epithelium morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the ventral surface of the tongue but not the dorsal surface

abnormal esophageal epithelium morphology ( J:76311 )

• intraepidermal cleft

abnormal stomach morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the fore stomach

craniofacial

abnormal palate morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the palate

abnormal tongue epithelium morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the ventral surface of the tongue but not the dorsal surface

limbs/digits/tail

abnormal autopod morphology ( J:76311 )

• paws often denuded of epidermis

abnormal tail morphology ( J:76311 )

• intraepidermal cleft

behavior/neurological

absent gastric milk in neonates ( J:76311 )

• never any milk in the stomach

integument

abnormal epidermal layer morphology ( J:76311 )

• delicate, loose and fragile, and contact to the dermis is lost

growth/size/body

abnormal palate morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the palate

abnormal tongue epithelium morphology ( J:76311 )

• intraepidermal cleft in the epithelial layer of the ventral surface of the tongue but not the dorsal surface

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex Dowling-Meara type		DOID:0060735	OMIM:131760	J:76311