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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count