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Phenotypes Associated with This Genotype
Genotype
MGI:3042129
Allelic
Composition
Lama3tm1Crt/Lama3tm1Crt
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lama3tm1Crt mutation (0 available); any Lama3 mutation (192 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Progressive blistering and reduced milk content in the stomach of Lama3tm1Crt/Lama3tm1Crt mice

mortality/aging
• homozygous null mice failed to thrive and died 2-3 days after birth

craniofacial
• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type
• the mutant enamel epithelium appeared disorganized and hypoplastic
• mutant mice showed normal incisor development until the onset of enamel secretion
• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated
• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation

digestive/alimentary system
• mutant mice displayed a reduced stomach size and milk content; however, no gastric obstruction was observed

growth/size/body
• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type
• the mutant enamel epithelium appeared disorganized and hypoplastic
• mutant mice showed normal incisor development until the onset of enamel secretion
• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated
• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation
• mutant mice weighed 40-50% less than wild-type littermates

integument
• in mutant skin, junctional blisters were caused by a separation at the dermal-epidermal junction
• basal cells appeared flattened and sparse
• electron microscopy revealed a complete absence of hemidesmosomes in some regions of the basal cells; hemidesmosomes appeared more diffuse and less well-defined
• in lesional areas, cell clusters in the superbasal cell layer appeared to remain undifferentiated
• after birth (~6-8 h), mutant mice developed progressive blistering of the forepaws, limbs, and oral mucosa
• mutant limbs and paws appeared red and bleeding, even in the absence of blistering lesions

skeleton
• in mutant incisors, enamel deposition was abnormal, and the enamel edge appeared frayed relative to wild-type
• the mutant enamel epithelium appeared disorganized and hypoplastic
• mutant mice showed normal incisor development until the onset of enamel secretion
• at the onset of enamel secretion in region II, the ameloblasts of mutant incisors appeared shorter and undulated
• relative to wild-type, mutant ameloblasts continued to remain smaller throughout subsequent differentiation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
junctional epidermolysis bullosa non-Herlitz type DOID:0060738 OMIM:226650
J:55865


Contributing Projects:
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