Codons 466-529 in exon 10, including the catalytic phosphorylation site (aspartic acid 475), were replaced with a neomycin resistance gene. Northern blot indicated no difference in levels of mRNA between wild-type and heterozygous mice. RT-PCR confirmed that the exon 9 was spliced to exon 11, producing the transcript of the expected length. (J:91844)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count