The entire 67 residue cytoplasmic domain was deleted except for the membrane proximal arginine. A codon for a second adjacent arginine followed by two stop codons was inserted. A loxed neo cassette was introduced downstream of exon 2 and sebsequently removed by transient cre expression from properly targeted ES cells. The extracellular domain and the transmembrane domain are expressed normally. (J:138731)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count