Lamp2^tm1.2Ces
Targeted Allele Detail

Summary

• Symbol: Lamp2^tm1.2Ces
• Name: lysosomal-associated membrane protein 2; targeted mutation 1.2, Christine E Seidman
• MGI ID: MGI:7339104
• Synonyms: L2^delta6
• Gene: Lamp2 Location: ChrX:37490234-37545331 bp, - strand Genetic Position: ChrX, 22.67 cM
• Alliance: Lamp2^tm1.2Ces page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:328713
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: 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. (J:328713)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Lamp2 Mutation: 15 strains or lines available

References

• Original: J:328713 Alcalai R, et al., LAMP2 Cardiomyopathy: Consequences of Impaired Autophagy in the Heart. J Am Heart Assoc. 2021 Sep 7;10(17):e018829
• All: 2 reference(s)