Lamc2^jeb
Spontaneous Allele Detail

Summary

• Symbol: Lamc2^jeb
• 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: Lamc2^jeb page

Mutation origin

• Strain of Origin: 129X1/SvJ

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

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: 70 strains or lines available

References

• 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: 7 reference(s)