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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col7a1em#Jtol
endonuclease-mediated mutation, Jakub Tolar
MGI:6390909
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col7a1em#Jtol/Col7a1em#Jtol involves: 129S4/SvJae * BALB/c * C57BL/Ka * NOD MGI:6390913


Genotype
MGI:6390913
hm1
Allelic
Composition
Col7a1em#Jtol/Col7a1em#Jtol
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/Ka * NOD
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col7a1em#Jtol mutation (0 available); any Col7a1 mutation (107 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• 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
• peripheral blood shows lack of B cells
• peripheral blood shows lack of NK lymphoid cells
• peripheral blood shows lack of T cells

hematopoietic system
• peripheral blood shows lack of B cells
• peripheral blood shows lack of NK lymphoid cells
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory