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Allele : Lamp2<tm1.2Ces> lysosomal-associated membrane protein 2; targeted mutation 1.2, Christine E Seidman

Primary Identifier  MGI:7339104 Allele Type  Targeted
Attribute String  Hypomorph Gene  Lamp2
Transmission  Germline Strain of Origin  129/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  An FRT-flanked neomycin resistance gene and a loxP site were introduced in intron 6 and a second loxP site was introduced in intron 5, located 200 bp 5’ of exon 6. The neomycin cassette was removed via flp-mediated recombination. Cre-mediated recombination deleted exon 6. This results in an in-frame deletion of 41 amino acids that has been identified in a family with cardiomyopathy. Western blots of heart left ventricle extracts show lower levels of protein.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • L2<delta6>,
  • L2<delta6>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories