About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col7a1tm1Lbt
targeted mutation 1, Leena Bruckner-Tuderman
MGI:3796248
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col7a1tm1Lbt/Col7a1tm1Lbt involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl MGI:3809430


Genotype
MGI:3809430
hm1
Allelic
Composition
Col7a1tm1Lbt/Col7a1tm1Lbt
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col7a1tm1Lbt mutation (0 available); any Col7a1 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Col7a1tm1Lbt/Col7a1tm1Lbt mice develop blisters early after birth

mortality/aging
• some mice fed a liquid diet survive longer than 100 days
• 67% die before weaning
• feeding mice a liquid diet from P10 improves survival and weight gain

limbs/digits/tail
• at 80 days of age paws display dermal-epidermal separation, thickening of the epidermis, accumulation of connective tissue and decrease of elastic fibers in the dermis indicating strong dermal fibrosis
• beginning at 2 -3 weeks of age the paw condition worsens to include shortened or missing digits
• by 9 - 12 weeks of age partial or complete mitten deformities (pseudosyndactyly) are seen
• deformities are more severe on the forepaws than on the hindpaws
• deformities are the result of soft tissue accumulation and contraction not bone deformities
• severe contractures

digestive/alimentary system
• blistering that results in malnutrition

growth/size/body
• blistering that results in malnutrition
• average weight at 2 - 3 weeks of age is about half that of control littermates and this difference is maintained until adolescence
• feeding mice a liquid diet from P10 improves survival and weight gain

skeleton
• reduced mineral content in the long bones of the extremities
• reduced mineral content in the long bones of the extremities

craniofacial
• blistering that results in malnutrition

integument
• beginning at 2 -3 weeks of age the paw condition worsens to include nail dystrophy
• at 80 days of age paws show accumulation of connective tissue and decrease of elastic fibers in the dermis indicating strong dermal fibrosis
• hemidesmosomes are normal but few anchoring fibrils are present
• relative thickening in the paws at 80 days of age
• at 80 days of age paws display dermal-epidermal separation
• hemorrhagic subepidermal blisters form on the soles of the fore and hind paws within 24 - 48 hours after birth
• blisters occasionally form on the ears and mouth
• variable extent of blister formation
• splitting of the skin occurs below the lamina densa





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/29/2016
MGI 6.06
The Jackson Laboratory