Analysis Tools|
Allele Symbol Allele Name Allele ID |
Col7a1tm1Uit targeted mutation 1, Jouni Uitto MGI:2154650 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die within a few days of birth
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• mice exhibit separation of the dermis and epidermis unlike in wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| recessive dystrophic epidermolysis bullosa | DOID:0060642 |
OMIM:226600 |
J:155326 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most affected homozygous mutant mice die within the first postnatal week from complications of blistering
• only a few mutant animals survive beyond the first week of life; one mutant survived past 3 weeks, requiring extensive supportive care
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• histopathologically, the perilesional ventral skin in mutants shows tissue cleavage at the dermal-epidermal junction; notably, the blister-free dorsal skin also displays focal dermal-epidermal tissue separation
• transmission electron microscopy confirmed that blister formation occurs in the sub-lamina densa area at the dermal side of the cutaneous basement membrane zone, the lamina densa being intact in the roof of the blister
• electron microscopy of non-blistered skin demonstrated absence of anchoring fibrils, which are readily detectable in both wild-type and heterozygous mutant mice
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• homozygous mutant mice show a striking blistering phenotype at birth or shortly thereafter
• in homozygotes, large blisters develop primarily on the ventral side, often extending to cover the extremities; the dorsal side develops blisters less frequently
• older homozygous mutant pups display erosions on their feet and blistering of the mucous membranes of the oral cavity
• those few animals surviving beyond the first week of life show normal hair growth, which appears to coincide with lessening of the blistering tendency in the skin; these mice continue to develop oral blisters, and eventually most of them die before the age of 2 weeks
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| recessive dystrophic epidermolysis bullosa | DOID:0060642 |
OMIM:226600 |
J:58533 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike Col7a1tm1Uit homozygotes, mice survive to reproduce
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| N |
• unlike Col7a1tm1Uit homozygotes, mice exhibit no dystrophic epidermolysis bullosa phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike Col7a1tm1Uit homozygotes, mice survive to reproduce
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| N |
• unlike Col7a1tm1Uit homozygotes, mice exhibit no dystrophic epidermolysis bullosa phenotype
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike Col7a1tm1Uit homozygotes, mice survive to reproduce
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| N |
• unlike Col7a1tm1Uit homozygotes, mice exhibit no dystrophic epidermolysis bullosa phenotype
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mice have a lifespan of 6 months
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• mice develop yellowish dental caries unlike wild-type mice
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• 2 weeks after birth, mice develop paw scaring unlike wild-type mice
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• at 1 to 2 months
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• mice develop yellowish dental caries unlike wild-type mice
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• mice develop yellowish dental caries unlike wild-type mice
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• mice develop subepidermal blistering unlike wild-type mice
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• 2 weeks after birth, mice develop paw scaring unlike wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| recessive dystrophic epidermolysis bullosa | DOID:0060642 |
OMIM:226600 |
J:155326 | |
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 12/10/2024 MGI 6.24 |
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