Phenotypes Associated with This Genotype

Genotype
MGI:3711939

• Allelic Composition: Col17a1^tm1Shzu/Col17a1^tm1Shzu
• Genetic Background: B6.129S-Col17a1^tm1Shzu

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:121695 )

• most mice die within 2 weeks of birth; mortality rates at 8 weeks of age are 80.1% vs 4% of wild-type

growth/size/body

postnatal growth retardation ( J:121695 )

• relative to wild-type littermates, mice show growth retardation

reproductive system

abnormal fertility/fecundity ( J:121695 )

• mice are unable to reproduce

integument

sparse hair ( J:121695 )

abnormal epidermal layer morphology ( J:121695 )

• small and poorly formed hemidesmosomes lacking prominent inner and outer plaques and keratin filament insertion are observed compared to controls

blistering ( J:121695 )

• at birth, blisters can be created by mild friction

• mice show subepidermal blistering

abnormal skin condition ( J:121695 )

• at birth, blisters and erosion at sites of trauma are easily induced by mild friction

• in homozygous pups, genital erosions and hemorrhagic blisters around the digits are also seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa non-Herlitz type		DOID:0060738	OMIM:226650	J:121695