A neomycin selection cassette was inserted into exon 7. An absence of transcript generated from this allele was determined by Northern blot and RT-PCR analyses of total bone RNA. Western blot analysis of protein extracts from homozygous mutant bone showed a lack or encoded protein. (J:50934)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count