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| Nomenclature |
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Symbol:
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Lamc2jeb
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Name:
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laminin, gamma 2;
junctional epidermolysis bullosa
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MGI ID: |
MGI:3609880 |
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Gene:
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Lamc2
Location:
Chr1:153122756-153186447 bp, - strand
Genetic Position: Chr1,
65.26 cM, cytoband H1
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Mutation
origin |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: 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. (J:158873)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:158873
Bubier JA et al.,
"A Mouse Model of Generalized Non-Herlitz Junctional Epidermolysis Bullosa."
J Invest Dermatol 2010 Mar 25;130(7):1819-28
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All: |
2 reference(s)
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Analysis Tools
