Phenotypes Associated with This Genotype

Genotype
MGI:5749252

• Allelic Composition: Lamb3^tm1.1Hosc/Lamb3^tm1.1Hosc
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:218616 )

• no pups survive the first 3 days of life

neonatal lethality, incomplete penetrance ( J:218616 )

• some mice die at birth or within 24 hours of birth

integument

abnormal skin morphology ( J:218616 )

• skin shows absence of the alpha3 and beta3 chains of laminin-332, whereas collagen VII is not diminished

abnormal epidermal-dermal junction morphology ( J:218616 )

• irregular clefting at the dermo-epidermal junction

abnormal skin appearance ( J:218616 )

• erosions of the abdominal skin, paws or the tail tip

• skin erosions affect 5-15% of the total body surface

blistering ( J:218616 )

• blistering of the abdominal skin, paws or the tail tip

• blisters usually develop within 2 days of life, although a few mice have blisters at first examination

growth/size/body

decreased body weight ( J:218616 )

• pups affected with blisters lose up to 13% of body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa Herlitz type		DOID:0060737	OMIM:226700	J:218616