Exon 3 (containing the start codon) was replaced with a neo cassette by homologous recombination. Northern blot analysis of RNA from liver, kidney and ileum showed absence of full length RNA in homozygotes. Western blot analysis of protein from the intestines confirmed absence of the wild-type protein. The mutation was designed to avoid affecting the surrounding gene, Idua, absence of an effect was confirmed by RT-PCR and enzyme activity analyses. (J:158567)
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