A neo cassette was inserted into the ATG start codon in the first exon. RT-PCR confirmed the absence of transcripts for isoform a in E13.5 embyos but an increase in isoform b transcripts. (J:194202)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count