A neomycin cassette was inserted into exon 2. This allele is a hypomorphic allele; an mRNA containing an ORF encoding an amino-terminal truncated protein with intact DNA and ligand-binding domains is generated. (J:27441)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count