Phenotypes associated with this allele

• Allele Symbol: Col7a1^em#Jtol
• Allele Name: endonuclease-mediated mutation, Jakub Tolar
• Allele ID: MGI:6390909
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col7a1^em#Jtol/Col7a1^em#Jtol	involves: 129S4/SvJae * BALB/c * C57BL/Ka * NOD	MGI:6390913

Genotype
MGI:6390913

hm1

• Allelic Composition: Col7a1^em#Jtol/Col7a1^em#Jtol
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/Ka * NOD

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

integument

blistering ( J:280214 )

• neonates exhibit blistered paws shortly after birth, followed by formation of more severe blisters and open wounds characteristic of skin fragility

• blistered mice transplanted with human-dermis-derived cells expressing the ATP-binding cassette sub-family B member 5 glycoprotein (ABCB5) show a dramatic improvement in survival

immune system

absent B cells ( J:280214 )

• peripheral blood shows lack of B cells

absent NK T cells ( J:280214 )

• peripheral blood shows lack of NK lymphoid cells

absent T cells ( J:280214 )

• peripheral blood shows lack of T cells

hematopoietic system

absent B cells ( J:280214 )

• peripheral blood shows lack of B cells

absent NK T cells ( J:280214 )

• peripheral blood shows lack of NK lymphoid cells

absent T cells ( J:280214 )

• peripheral blood shows lack of T cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
recessive dystrophic epidermolysis bullosa		DOID:0060642	OMIM:226600	J:280214