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Spontaneous Allele Detail
Symbol: Lamc2jeb
Name: laminin, gamma 2; junctional epidermolysis bullosa
MGI ID: MGI:3609880
Gene: Lamc2  Location: Chr1:153122756-153186447 bp, - strand  Genetic Position: Chr1, 65.26 cM, cytoband H1
Strain of Origin:  129X1/SvJ
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Insertion
Mutation detailsSequencing 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)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 8 strains available      Cell Lines: 0 lines available
Carrying any Lamc2 Mutation:  15 strains or lines available
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
All:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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