Exons 12-14 were disrupted with a PGK-neo cassette via homologous recombination resulting in the loss of 2 LXXLL motifs. Northern and Western blot analysis of fibroblasts from homozygous mutant embryos showed absence of gene transcript and protein product. (J:62272)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count