Lamp3^em1Damme
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lamp3^em1Damme
• Name: lysosomal-associated membrane protein 3; endonuclease-mediated mutation 1, Markus Damme
• MGI ID: MGI:7434942
• Synonyms: Lamp3^-
• Gene: Lamp3 Location: Chr16:19472131-19525115 bp, - strand Genetic Position: Chr16, 12.17 cM
• Alliance: Lamp3^em1Damme page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting exon 2 generated a 40 bp deletion leading to a frameshift mutation that results in an early stop codon. Immunohistochemical staining of lung sections with an antibody specific for LAMP3 confirmed the absence of protein expression in alveolar type II cells of homozygous mutant mice. (J:324174)

Expression

In Structures Affected by this Mutation:

1 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 Lamp3 Mutation: 43 strains or lines available

References

• Original: J:324174 Lunding LP, et al., LAMP3 deficiency affects surfactant homeostasis in mice. PLoS Genet. 2021 Jun;17(6):e1009619
• All: 1 reference(s)