Two exons of this gene spanning nucleotides 278-807 were replaced with a neo resistance cassette, causing a frameshift in the ORF resulting in premature translation termination and deletion of the first EGF-like repeat, the pro-gly-rich region, and the beginning of the first 8-cys domain. Northern blot analysis of lung from homozygous mutant animals using a probe corresponding to the deleted exons failed to detect transcripts. (J:76213)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count