The molecular lesion is a a ~30 kb deletion that encompasses exon 5 and has endpoints within a pair of LINE elements. PCR typing showed that the ~30 kb deletion is present in both R1 ES cells and in 129X1/SvJ mice, but not in the closely related 129S1/SvlmJ or 129S6/SvEvTac strains. (J:228899)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count