Exon 1 was deleted via conventional gene targeting. A long isoform of the encoded protein is not expressed, but short ESPN isoforms arising from an alternative translation start site in exon 6 are unaffected. (J:236347)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count