Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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 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) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

9 anatomical structure(s)

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:	70 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:	5 reference(s)