A PGK-neomycin resistance cassette was inserted into the only exon of the gene. Western blot analysis of primary embryonic fibroblasts detected only one of the two wild-type forms of the protein in homozygous mutant mice. Northern blot analysis did not detect transcript in osteoblast lineage cells derived from calvariae of homozygous mutant newborns. Also, BMP2-stimulated DNA synthesis was enhanced in these cells compared to wild-type. (J:66504)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count