About   Help   FAQ
Spontaneous Allele Detail
Symbol: Lamc2jeb
Name: laminin, gamma 2; junctional epidermolysis bullosa
MGI ID: MGI:3609880
Gene: Lamc2  Location: Chr1:152998502-153062193 bp, - strand  Genetic Position: Chr1, 65.26 cM, cytoband H1
Alliance: Lamc2jeb page
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 and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 10 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Lamc2 Mutation:  51 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)

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory