This Lamc2jeb mutant mouse strain may be useful in studies of epidermolysis bullosa and is a model for Non-Herlitz Type Junctional Epidermolysis Bullosa.
Dr. Derry Roopenian, The Jackson Laboratory
Genetic Background | Generation |
---|---|
|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Spontaneous (Hypomorph) | Lamc2 | laminin, gamma 2 |
Mice that are heterozygous for this mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Northern blot analysis of skin from homozygotes detects the wildtype and a dominant larger sized mutant gene product (mRNA). Homozygotes express a reduced level of gene product (protein), as detected by Western blot analysis of keratinocytes. Mean onset of progressive skin blistering disease in homozygotes on the 129X1 background is age 154 days. Homozygotes exhibit ulcerated lesions and tissue granulation in ear skin, which develops into deformed pinna; ulcerated lesions in the footpads and tail. Thickened epidermis (hyperplasia) and subepidermal separation, with little to no inflammation, occurs in the skin of the footpads and tail. Ultrastructural analysis of skin with electron microscopy reveals that the dermal-epidermal separation occurs at the lamina lucida.
The Lamc2jeb spontaneous mutation arose in the 129X1-Fcgrttm1Dcr/Dcr colony of Dr. Derry Roopenian. The mutation was revealed to be a single retroviral insertion (murine leukemia virus long terminal repeat) in intron 18 of the Lamc2 gene. Heterozygotes were intercrossed to generate homozygotes.
Allele Name | junctional epidermolysis bullosa |
---|---|
Allele Type | Spontaneous (Hypomorph) |
Allele Synonym(s) | |
Gene Symbol and Name | Lamc2, laminin, gamma 2 |
Gene Synonym(s) | |
Strain of Origin | 129X1/SvJ |
Chromosome | 1 |
Molecular Note | Sequencing of mutant genomic DNA revealed the presence of a single murine leukemia virus long terminal repeat (MLV LTR) insertion of 560 bp within the eighteenth intron. Northern blot and RT-PCR analysis detected an aberrant transcript that retains intron 18 and the LTR, and introduces a TAG translational stop codon in intron 18. However, a correctly spliced WT transcript is also produced at low abundance suggesting that this allele acts as a hypomorph. A noncomplementation test with a null allele of this gene further confirmed that the insertion is the cause of the mutant phenotype. |
When maintaining a live colony, these mice can be bred as homozygotes. Mean onset of phenotypic traits in mice homozygous for the mutation on the 129X1 background is age 154 days.
When using the 129X1/SvJ-Lamc2jeb/DcrJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #006859 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Lamc2<jeb> |
Frozen Mouse Embryo | 129X1/SvJ-Lamc2<jeb>/DcrJ | $2595.00 |
Frozen Mouse Embryo | 129X1/SvJ-Lamc2<jeb>/DcrJ | $2595.00 |
Frozen Mouse Embryo | 129X1/SvJ-Lamc2<jeb>/DcrJ | $3373.50 |
Frozen Mouse Embryo | 129X1/SvJ-Lamc2<jeb>/DcrJ | $3373.50 |
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
What information were you hoping to find through your search?
How easy was it to find what you were looking for?
We may wish to follow up with you. Enter your email if you are happy for us to connect and reachout to you with more questions.
Please Enter a Valid Email Address
Thank you for sharing your feedback! We are working on improving the JAX Mice search. Come back soon for exciting changes.