A 4 kb region of this gene including exons 1 and 2 was replaced with a neomycin cassette via homologous recombination, resulting in the deletion of sequences encoding the translation initiation codon, signal peptide, and part of the N-terminal extracellular domain. In situ hybridization did not detect mRNA in retinal ganglion cells from brain of homozygous mutant animals. (J:74587)
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