Phenotypes Associated with This Genotype

Genotype
MGI:2179721

• Allelic Composition: Lamb3^IAP/Lamb3^IAP
• Genetic Background: involves: C3H * C57BL/6

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

Control and Lamb3^IAP/Lamb3^IAP histological skin section.

mortality/aging

neonatal lethality, complete penetrance ( J:42382 )

• animals died within 24 hours of birth, usually without feeding

respiratory system

abnormal nasopharynx morphology ( J:42382 )

• epithelial layer delaminated in nasopharynx

abnormal oropharynx morphology ( J:42382 )

• epithelial layer delaminated in oropharynx

digestive/alimentary system

abnormal tongue epithelium morphology ( J:42382 )

• epithelial layer delaminated

craniofacial

abnormal tongue epithelium morphology ( J:42382 )

• epithelial layer delaminated

integument

dermal-epidermal separation ( J:42382 )

• the entire epithelial layer often delaminated from the distal limbs

blistering ( J:42382 )

• clear fluid blisters appear at frictional areas

growth/size/body

abnormal tongue epithelium morphology ( J:42382 )

• epithelial layer delaminated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa Herlitz type		DOID:0060737	OMIM:226700	J:42382
junctional epidermolysis bullosa non-Herlitz type		DOID:0060738	OMIM:226650	J:42382