Part of intron 2, the last 3 amino acids of the N-terminal signal peptide and the first 14 amino acids of the mature protein, in exon 3, were replaced by a neomycin resistance gene. Southern blotting confirmed recombination in ES cells and in homozygous mice. RT-PCR indicated lack of transcript in mutant hypothalamus, testis and placenta. mRNA content in mutant pituitary was significantly less than that in wild-types and heterozygotes and Western blot confirmed this by showing a reduction in the intensity of protein in mutant pituitary and no protein in testes. (J:91828)
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