The targeting construct inserted an IRES-beta-geo fusion cassette flanked by loxP sites, flanked exons 10 and 11, and replaced exon 11 with one encoding the amino acid substitution of aspartic acid with asparagine at position 316 (D316N). After removing the gene trap cassette by the cre recombinase, the allele expresses a modified protein product with the amino acid substitution. (J:104881, J:309735)
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