Sequence analysis revealed that one thymine was substituted for the 14 bp at the junction between exon VIII and intron VIII. This results in the skipping of exon 8 in the expressed transcript, resulting in a deletion of the transmembrane domain and C-terminus of the encoded protein. Soluble Cd4 is detectable in the sera of mutant mice. (J:46692)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count