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Allele : Lamc2<jeb> laminin, gamma 2; junctional epidermolysis bullosa

Primary Identifier  MGI:3609880 Allele Type  Spontaneous
Attribute String  Hypomorph Gene  Lamc2
Inheritance Mode  Recessive Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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17 Carried By

Trail: Allele

0 Driven By

9 Publication categories

Trail: Allele